Levy, Harvey
eCommons Login: HLL1
first name: Harvey
last name: Levy
coauthor of: Berry, Gerard
coauthor of: Waisbren, Susan
coauthor of: Rodan, Lance
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full name: Harvey Louis Levy, M.D.
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Authorship 1046799
type: Authorship
author rank in publication: 6
linked author: Levy, Harvey
linked information resource: Metabolomic Markers of Essential Fatty Acids, Carnitine, and Cholesterol Metabolism in Adults and Adolescents with Phenylketonuria.

Authorship 1046873
type: Authorship
author rank in publication: 7
linked author: Levy, Harvey
linked information resource: Metabolomic Insights into the Nutritional Status of Adults and Adolescents with Phenylketonuria Consuming a Low-Phenylalanine Diet in Combination with Amino Acid and Glycomacropeptide Medical Foods.

Metabolomic Insights into the Nutritional Status of Adults and Adolescents with Phenylketonuria Consuming a Low-Phenylalanine Diet in Combination with Amino Acid and Glycomacropeptide Medical Foods.
PubMed Identifier: 29464117
author list: Stroup BM, Ney DM, Murali SG, Rohr F, Gleason ST, van Calcar SC, Levy HL
published in: Journal of nutrition and metabolism
information resource reference: Metabolomic Insights into the Nutritional Status of Adults and Adolescents with Phenylketonuria Consuming a Low-Phenylalanine Diet in Combination with Amino Acid and Glycomacropeptide Medical Foods. J Nutr Metab. 2017; 2017:6859820.
journal title abbreviation: J Nutr Metab
publication date: 2017-12-31T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Metabolomic Markers of Essential Fatty Acids, Carnitine, and Cholesterol Metabolism in Adults and Adolescents with Phenylketonuria.
PubMed Identifier: 29490096
author list: Stroup BM, Nair N, Murali SG, Broniowska K, Rohr F, Levy HL, Ney DM
published in: The Journal of nutrition
information resource reference: Metabolomic Markers of Essential Fatty Acids, Carnitine, and Cholesterol Metabolism in Adults and Adolescents with Phenylketonuria. J Nutr. 2018 02 01; 148(2):194-201.
journal title abbreviation: J Nutr
publication date: 2018-02-01T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema.
PubMed Identifier: 12640389
author list: Picker JD, Puga AC, Levy HL, Marsden D, Shih VE, Degirolami U, Ligon KL, Cederbaum SD, Kern RM, Cox GF
published in: The Journal of pediatrics
information resource reference: Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema. J Pediatr. 2003 Mar; 142(3):349-52.
journal title abbreviation: J Pediatr
publication date: 2003-03-01T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome.
PubMed Identifier: 14654659
author list: Güttler F, Azen C, Guldberg P, Romstad A, Hanley WB, Levy HL, Matalon R, Rouse BM, Trefz F, de la Cruz F, Koch R
published in: Pediatrics
information resource reference: Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome. Pediatrics. 2003 Dec; 112(6 Pt 2):1530-3.
journal title abbreviation: Pediatrics
publication date: 2003-12-01T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis.
PubMed Identifier: 17591452
author list: Waisbren SE, Noel K, Fahrbach K, Cella C, Frame D, Dorenbaum A, Levy H
published in: Molecular genetics and metabolism
information resource reference: Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis. Mol Genet Metab. 2007 Sep-Oct; 92(1-2):63-70.
journal title abbreviation: Mol Genet Metab
publication date: 2007-06-25T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles.
PubMed Identifier: 17502162
author list: Dobrowolski SF, Ellingson C, Coyne T, Grey J, Martin R, Naylor EW, Koch R, Levy HL
published in: Molecular genetics and metabolism
information resource reference: Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles. Mol Genet Metab. 2007 Jul; 91(3):218-27.
journal title abbreviation: Mol Genet Metab
publication date: 2007-05-14T00:00:00
year: 2007
type: Academic Article
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type: Document
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Authorship 1076822
type: Authorship
author rank in publication: 1
linked author: Levy, Harvey
linked information resource: Phenylalanine ammonia lyase (PAL): From discovery to enzyme substitution therapy for phenylketonuria.

Phenylalanine ammonia lyase (PAL): From discovery to enzyme substitution therapy for phenylketonuria.
PubMed Identifier: 29941359
author list: Levy HL, Sarkissian CN, Scriver CR
published in: Molecular genetics and metabolism
information resource reference: Phenylalanine ammonia lyase (PAL): From discovery to enzyme substitution therapy for phenylketonuria. Mol Genet Metab. 2018 08; 124(4):223-229.
journal title abbreviation: Mol Genet Metab
publication date: 2018-06-09T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Expanded screening of newborns for genetic disorders.
PubMed Identifier: 14970058
author list: Waisbren SE, Levy HL
published in: JAMA
information resource reference: Expanded screening of newborns for genetic disorders. JAMA. 2004 Feb 18; 291(7):820-1; author reply 821.
journal title abbreviation: JAMA
publication date: 2004-02-18T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource

Newborn screening for metabolic disorders.
PubMed Identifier: 16737864
author list: Marsden D, Larson C, Levy HL
published in: The Journal of pediatrics
information resource reference: Newborn screening for metabolic disorders. J Pediatr. 2006 May; 148(5):577-584.
journal title abbreviation: J Pediatr
publication date: 2006-05-01T00:00:00
year: 2006
type: Academic Article
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type: Document
type: Information Resource

Authorship 1082506
type: Authorship
author rank in publication: 10
linked author: Levy, Harvey
linked information resource: The BabySeq project: implementing genomic sequencing in newborns.

The BabySeq project: implementing genomic sequencing in newborns.
PubMed Identifier: 29986673
author list: Holm IA, Agrawal PB, Ceyhan-Birsoy O, Christensen KD, Fayer S, Frankel LA, Genetti CA, Krier JB, LaMay RC, Levy HL, McGuire AL, Parad RB, Park PJ, Pereira S, Rehm HL, Schwartz TS, Waisbren SE, Yu TW, Green RC, Beggs AH
published in: BMC pediatrics
information resource reference: The BabySeq project: implementing genomic sequencing in newborns. BMC Pediatr. 2018 07 09; 18(1):225.
journal title abbreviation: BMC Pediatr
publication date: 2018-07-09T00:00:00
year: 2018
type: Academic Article
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The clinical aspects of newborn screening: importance of newborn screening follow-up.
PubMed Identifier: 17183568
author list: James PM, Levy HL
published in: Mental retardation and developmental disabilities research reviews
information resource reference: The clinical aspects of newborn screening: importance of newborn screening follow-up. Ment Retard Dev Disabil Res Rev. 2006; 12(4):246-54.
journal title abbreviation: Ment Retard Dev Disabil Res Rev
publication date: 2006-01-01T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
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Authorship 126501
type: Authorship
author rank in publication: 30
linked author: Levy, Harvey
linked information resource: The adult galactosemic phenotype.

Congenital heart disease in maternal PKU.
PubMed Identifier: 23123163
author list: Levy HL
published in: Molecular genetics and metabolism
information resource reference: Congenital heart disease in maternal PKU. Mol Genet Metab. 2012 Dec; 107(4):648-9.
journal title abbreviation: Mol Genet Metab
publication date: 2012-10-12T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Metabolic disorders in the center of genetic medicine.
PubMed Identifier: 16267330
author list: Levy HL
published in: The New England journal of medicine
information resource reference: Metabolic disorders in the center of genetic medicine. N Engl J Med. 2005 Nov 03; 353(18):1968-70.
journal title abbreviation: N Engl J Med
publication date: 2005-11-03T00:00:00
year: 2005
type: Academic Article
type: Article
type: Document
type: Information Resource

Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment.
PubMed Identifier: 18036498
author list: Levy H, Burton B, Cederbaum S, Scriver C
published in: Molecular genetics and metabolism
information resource reference: Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment. Mol Genet Metab. 2007 Dec; 92(4):287-91.
journal title abbreviation: Mol Genet Metab
publication date: 2007-12-01T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1125298
type: Authorship
author rank in publication: 3
linked author: Levy, Harvey
linked information resource: Revising the Psychiatric Phenotype of Homocystinuria.

Revising the Psychiatric Phenotype of Homocystinuria.
PubMed Identifier: 30643218
author list: Almuqbil MA, Waisbren SE, Levy HL, Picker JD
published in: Genetics in medicine : official journal of the American College of Medical Genetics
information resource reference: Revising the Psychiatric Phenotype of Homocystinuria. Genet Med. 2019 08; 21(8):1827-1831.
journal title abbreviation: Genet Med
publication date: 2019-01-15T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 121702
type: Authorship
author rank in publication: 1
linked author: Levy, Harvey
linked information resource: Metabolic disorders in the center of genetic medicine.

Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening.
PubMed Identifier: 20580581
author list: Yusupov R, Finegold DN, Naylor EW, Sahai I, Waisbren S, Levy HL
published in: Molecular genetics and metabolism
information resource reference: Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening. Mol Genet Metab. 2010 Sep; 101(1):33-9.
journal title abbreviation: Mol Genet Metab
publication date: 2010-06-09T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders.
PubMed Identifier: 22713811
author list: Saranjam H, Chopra SS, Levy H, Stubblefield BK, Maniwang E, Cohen IJ, Baris H, Sidransky E, Tayebi N
published in: European journal of human genetics : EJHG
information resource reference: A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders. Eur J Hum Genet. 2013 Jan; 21(1):115-7.
journal title abbreviation: Eur J Hum Genet
publication date: 2012-06-20T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1130665
type: Authorship
author rank in publication: 9
linked author: Levy, Harvey
linked information resource: The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.

The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.
PubMed Identifier: 30718057
author list: Demirbas D, Huang X, Daesety V, Feenstra S, Haskovic M, Qi W, Gubbels CS, Hecht L, Levy HL, Waisbren SE, Berry GT
published in: Molecular genetics and metabolism
information resource reference: The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency. Mol Genet Metab. 2019 04; 126(4):368-376.
journal title abbreviation: Mol Genet Metab
publication date: 2019-01-22T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

Homocystinuria
MeSH DescriptorUI: D006712
MeSH semantic group name: Disorders
number of authors: 44
number of publications: 69
uniqueness weight: 0.940016
type: Concept

Phenylalanine Hydroxylase
MeSH DescriptorUI: D010651
MeSH semantic group name: Chemicals & Drugs
number of authors: 19
number of publications: 26
uniqueness weight: 0.980731
type: Concept

Phenylketonurias
MeSH DescriptorUI: D010661
MeSH semantic group name: Disorders
number of authors: 41
number of publications: 139
uniqueness weight: 0.870533
type: Concept

Neonatal Screening
MeSH DescriptorUI: D015997
MeSH semantic group name: Procedures
number of authors: 285
number of publications: 702
uniqueness weight: 0.657642
type: Concept

Phenylalanine
MeSH DescriptorUI: D010649
MeSH semantic group name: Chemicals & Drugs
number of authors: 214
number of publications: 386
uniqueness weight: 0.841686
type: Concept

Medicine
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Neurology
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Pediatrics
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Psychiatry
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Genetics
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Infectious Disease
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Oncology
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Boston Children's Hospital
type: Organization

Dana-Farber Cancer Institute
type: Organization

Massachusetts General Hospital
type: Organization

Authorship 125276
type: Authorship
author rank in publication: 3
linked author: Levy, Harvey
linked information resource: Newborn screening for metabolic disorders.

Weitzman, Elissa
eCommons Login: EW8
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linked author: Levy, Harvey
linked information resource: Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment.

Sahai, Inderneel
eCommons Login: IS22
first name: Inderneel
last name: Sahai
full name: Inderneel Sahai, M.B.,B.S.
has faculty rank: Lecturer
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person in primary position: Lecturer on Pediatrics, Part-time
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Gentile, Jennifer
eCommons Login: JKG6
first name: Jennifer
last name: Gentile
full name: Jennifer K Gentile, Psy.D.
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longitude: -71.10956700000000
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person in primary position: Lecturer on Psychology in the Department of Psychiatry, Part-time
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Berry, Gerard
eCommons Login: GTB2
first name: Gerard
last name: Berry
full name: Gerard T. Berry, M.D.
has faculty rank: Full Professor
latitude: 42.33743600000000
longitude: -71.10544700000000
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person in primary position: Professor of Pediatrics
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Bourgeois, Fabienne
eCommons Login: FCB3
first name: Fabienne
last name: Bourgeois
full name: Fabienne Catya Bourgeois, M.D.
has faculty rank: Assistant Professor
latitude: 42.33969600000000
longitude: -71.10956700000000
Person ID: 32157
person in primary position: Assistant Professor of Pediatrics
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preferred title: Assistant Professor of Pediatrics

Reis, Ben
eCommons Login: BYR1
first name: Ben
last name: Reis
full name: Ben Y. Reis, Ph.D.
has faculty rank: Associate Professor
latitude: 42.33969600000000
longitude: -71.10956700000000
photo: https://connects.catalyst.harvard.edu/Profiles/profile/Modules/CustomViewPersonGeneralInfo/PhotoHandler.ashx
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person in primary position: Associate Professor of Pediatrics
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Nakamura, Mari
eCommons Login: MMN5
first name: Mari
last name: Nakamura
full name: Mari Michele Nakamura, M.D.
has faculty rank: Associate Professor
latitude: 42.33969600000000
longitude: -71.10956700000000
Person ID: 61642
person in primary position: Associate Professor of Pediatrics
type: Agent
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preferred title: Associate Professor of Pediatrics

Authorship 1165030
type: Authorship
author rank in publication: 9
linked author: Levy, Harvey
linked information resource: Phenotypic variability in deficiency of the a subunit of succinate-CoA ligase.

Phenotypic variability in deficiency of the a subunit of succinate-CoA ligase.
PubMed Identifier: 31240156
author list: Demirbas D, Harris DJ, Arn PH, Huang X, Waisbren SE, Anselm I, Lerner-Ellis JP, Wong LJ, Levy HL, Berry GT
published in: JIMD reports
information resource reference: Phenotypic variability in deficiency of the a subunit of succinate-CoA ligase. JIMD Rep. 2019 Mar; 46(1):63-69.
journal title abbreviation: JIMD Rep
publication date: 2019-03-14T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

Waisbren, Susan
eCommons Login: SEW1
first name: Susan
last name: Waisbren
full name: Susan Ellen Waisbren, Ph.D.
has faculty rank: Full Professor
latitude: 42.33743600000000
longitude: -71.10544700000000
Person ID: 75139
person in primary position: Professor of Pediatrics
type: Agent
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preferred title: Professor of Pediatrics

Authorship 139524
type: Authorship
author rank in publication: 2
linked author: Levy, Harvey
linked information resource: The clinical aspects of newborn screening: importance of newborn screening follow-up.

Authorship 1198148
type: Authorship
author rank in publication: 8
linked author: Levy, Harvey
linked information resource: Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study.

Authorship 1196738
type: Authorship
author rank in publication: 2
linked author: Levy, Harvey
linked information resource: Can Newborn Screening for Vitamin B12 Deficiency be Incorporated into All Newborn Screening Programs?

Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study.
PubMed Identifier: 31623983
author list: Rajabi F, Rohr F, Wessel A, Martell L, Dobrowolski SF, Guldberg P, Güttler F, Levy HL
published in: Molecular genetics and metabolism
information resource reference: Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study. Mol Genet Metab. 2019 12; 128(4):415-421.
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publication date: 2019-09-14T00:00:00
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Can Newborn Screening for Vitamin B12 Deficiency be Incorporated into All Newborn Screening Programs?
PubMed Identifier: 31610929
author list: Hawthorne S, Levy HL
published in: The Journal of pediatrics
information resource reference: Can Newborn Screening for Vitamin B12 Deficiency be Incorporated into All Newborn Screening Programs? J Pediatr. 2020 01; 216:9-11.e1.
journal title abbreviation: J Pediatr
publication date: 2019-10-12T00:00:00
year: 2019
type: Academic Article
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type: Information Resource

Authorship 1219922
type: Authorship
author rank in publication: 2
linked author: Levy, Harvey
linked information resource: Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1.

Authorship 1219877
type: Authorship
author rank in publication: 5
linked author: Levy, Harvey
linked information resource: Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report.

Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report.
PubMed Identifier: 31956506
author list: Rohr F, Kritzer A, Harding CO, Viau K, Levy HL
published in: Molecular genetics and metabolism reports
information resource reference: Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report. Mol Genet Metab Rep. 2020 Mar; 22:100555.
journal title abbreviation: Mol Genet Metab Rep
publication date: 2020-01-10T00:00:00
year: 2020
type: Academic Article
type: Article
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Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1.
PubMed Identifier: 30619714
author list: Glinton KE, Levy HL, Kennedy AD, Pappan KL, Elsea SH
published in: Molecular genetics and metabolism reports
information resource reference: Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1. Mol Genet Metab Rep. 2019 Mar; 18:14-18.
journal title abbreviation: Mol Genet Metab Rep
publication date: 2018-12-29T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1270143
type: Authorship
author rank in publication: 22
linked author: Levy, Harvey
linked information resource: The Genetic Landscape and Epidemiology of Phenylketonuria.

The Genetic Landscape and Epidemiology of Phenylketonuria.
PubMed Identifier: 32668217
author list: Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Ðordevic M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Gizewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljkovic M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N
published in: American journal of human genetics
information resource reference: The Genetic Landscape and Epidemiology of Phenylketonuria. Am J Hum Genet. 2020 08 06; 107(2):234-250.
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Authorship 233787
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linked information resource: Historical background for the maternal PKU syndrome.

Authorship 1319468
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author rank in publication: 1
linked author: Levy, Harvey
linked information resource: Robert Guthrie and the Trials and Tribulations of Newborn Screening.

Authorship 1319708
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author rank in publication: 1
linked author: Levy, Harvey
linked information resource: Ethical and Psychosocial Implications of Genomic Newborn Screening.

Ethical and Psychosocial Implications of Genomic Newborn Screening.
PubMed Identifier: 33435408
author list: Levy HL
published in: International journal of neonatal screening
information resource reference: Ethical and Psychosocial Implications of Genomic Newborn Screening. Int J Neonatal Screen. 2021 Jan 09; 7(1).
journal title abbreviation: Int J Neonatal Screen
publication date: 2021-01-09T00:00:00
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Robert Guthrie and the Trials and Tribulations of Newborn Screening.
PubMed Identifier: 33478143
author list: Levy HL
published in: International journal of neonatal screening
information resource reference: Robert Guthrie and the Trials and Tribulations of Newborn Screening. Int J Neonatal Screen. 2021 Jan 19; 7(1).
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publication date: 2021-01-19T00:00:00
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type: Article
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Authorship 1363787
type: Authorship
author rank in publication: 8
linked author: Levy, Harvey
linked information resource: Pancreatic involvement in patients with inborn errors of metabolism.

Pancreatic involvement in patients with inborn errors of metabolism.
PubMed Identifier: 33472655
author list: Hwang WJ, Lim HH, Kim YM, Chang MY, Kil HR, Kim JY, Song WJ, Levy HL, Kim SZ
published in: Orphanet journal of rare diseases
information resource reference: Pancreatic involvement in patients with inborn errors of metabolism. Orphanet J Rare Dis. 2021 01 20; 16(1):37.
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publication date: 2021-01-20T00:00:00
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Authorship 178560
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author rank in publication: 1
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linked information resource: Lessons from the past--looking to the future. Newborn screening.

Authorship 1416321
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author rank in publication: 1
linked author: Levy, Harvey
linked information resource: Early Development of Newborn Screening for HCU and Current Challenges.

Early Development of Newborn Screening for HCU and Current Challenges.
PubMed Identifier: 34842599
author list: Levy HL
published in: International journal of neonatal screening
information resource reference: Early Development of Newborn Screening for HCU and Current Challenges. Int J Neonatal Screen. 2021 Oct 25; 7(4).
journal title abbreviation: Int J Neonatal Screen
publication date: 2021-10-25T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

Rodan, Lance
eCommons Login: LHR8
first name: Lance
last name: Rodan
full name: Lance H Rodan, M.D.
has faculty rank: Assistant Professor
Person ID: 119175
person in primary position: Assistant Professor of Pediatrics
type: Agent
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preferred title: Assistant Professor of Pediatrics

Authorship 1510776
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author rank in publication: 4
linked author: Levy, Harvey
linked information resource: Charles Scriver: Epitome of the physician scientist.

Authorship 1511564
type: Authorship
author rank in publication: 8
linked author: Levy, Harvey
linked information resource: The hypergonadotropic hypogonadism conundrum of classic galactosemia.

The hypergonadotropic hypogonadism conundrum of classic galactosemia.
PubMed Identifier: 36512573
author list: Derks B, Rivera-Cruz G, Hagen-Lillevik S, Vos EN, Demirbas D, Lai K, Treacy EP, Levy HL, Wilkins-Haug LE, Rubio-Gozalbo ME, Berry GT
published in: Human reproduction update
information resource reference: The hypergonadotropic hypogonadism conundrum of classic galactosemia. Hum Reprod Update. 2023 03 01; 29(2):246-258.
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Charles Scriver: Epitome of the physician scientist.
PubMed Identifier: 36503822
author list: Sarkissian CN, Scriver PP, Prevost L, Levy HL
published in: Molecular genetics and metabolism
information resource reference: Charles Scriver: Epitome of the physician scientist. Mol Genet Metab. 2022 Dec; 137(4):388-398.
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publication date: 2022-11-04T00:00:00
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Authorship 171454
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author rank in publication: 2
linked author: Levy, Harvey
linked information resource: Fetal fatty acid oxidation defects and maternal liver disease in pregnancy.

Authorship 1534446
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linked author: Levy, Harvey
linked information resource: Is More Effective Newborn Screening for Homocystinuria on the Horizon?

Is More Effective Newborn Screening for Homocystinuria on the Horizon?
PubMed Identifier: 36949665
author list: Levy HL, Sahai I
published in: Clinical chemistry
information resource reference: Is More Effective Newborn Screening for Homocystinuria on the Horizon? Clin Chem. 2023 04 28; 69(5):433-434.
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publication date: 2023-04-28T00:00:00
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Addiction Medicine
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Chung, Wendy
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first name: Wendy
last name: Chung
full name: Wendy Chung, M.D., Ph.D.
has faculty rank: Full Professor
Person ID: 214837
person in primary position: Mary Ellen Avery Professor of Pediatrics
type: Agent
type: Person
preferred title: Mary Ellen Avery Professor of Pediatrics

Authorship 1566404
type: Authorship
author rank in publication: 1
linked author: Levy, Harvey
linked information resource: In memoriam: Charles Robert Scriver, CM, CC, GOQ, FRS, FRSC (1930-2023).

In memoriam: Charles Robert Scriver, CM, CC, GOQ, FRS, FRSC (1930-2023).
PubMed Identifier: 37217836
author list: Levy HL, Sarkissian CN
published in: Journal of inherited metabolic disease
information resource reference: In memoriam: Charles Robert Scriver, CM, CC, GOQ, FRS, FRSC (1930-2023). J Inherit Metab Dis. 2023 Jul; 46(4):756-757.
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Authorship 1587756
type: Authorship
author rank in publication: 6
linked author: Levy, Harvey
linked information resource: Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman.

Authorship 1588310
type: Authorship
author rank in publication: 5
linked author: Levy, Harvey
linked information resource: The treatment of biochemical genetic diseases: From substrate reduction to nucleic acid therapies.

Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman.
PubMed Identifier: 37701331
author list: Alghamdi MA, O'Donnell-Luria A, Almontashiri NA, AlAali WY, Ali HH, Levy HL
published in: JIMD reports
information resource reference: Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman. JIMD Rep. 2023 Sep; 64(5):312-316.
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publication date: 2023-07-25T00:00:00
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type: Academic Article
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The treatment of biochemical genetic diseases: From substrate reduction to nucleic acid therapies.
PubMed Identifier: 37716025
author list: Vos EN, Demirbas D, Mangel M, Rubio-Gozalbo ME, Levy HL, Berry GT
published in: Molecular genetics and metabolism
information resource reference: The treatment of biochemical genetic diseases: From substrate reduction to nucleic acid therapies. Mol Genet Metab. 2023 11; 140(3):107693.
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publication date: 2023-08-30T00:00:00
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type: Academic Article
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Authorship 390405
type: Authorship
author rank in publication: 9
linked author: Levy, Harvey
linked information resource: Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap.

Authorship 1633245
type: Authorship
author rank in publication: 2
linked author: Levy, Harvey
linked information resource: Past as Prologue: Predicting Potential Psychosocial-Ethical Burdens of Positive Newborn Screens as Conditions Propagate.

Past as Prologue: Predicting Potential Psychosocial-Ethical Burdens of Positive Newborn Screens as Conditions Propagate.
PubMed Identifier: 38390976
author list: Bush LW, Levy HL
published in: International journal of neonatal screening
information resource reference: Past as Prologue: Predicting Potential Psychosocial-Ethical Burdens of Positive Newborn Screens as Conditions Propagate. Int J Neonatal Screen. 2024 Feb 06; 10(1).
journal title abbreviation: Int J Neonatal Screen
publication date: 2024-02-06T00:00:00
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type: Academic Article
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type: Information Resource

Authorship 44226
type: Authorship
author rank in publication: 3
linked author: Levy, Harvey
linked information resource: Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema.

Authorship 474192
type: Authorship
author rank in publication: 3
linked author: Levy, Harvey
linked information resource: Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH).

Authorship 688703
type: Authorship
author rank in publication: 3
linked author: Levy, Harvey
linked information resource: Phenylketonuria.

Authorship 687714
type: Authorship
author rank in publication: 2
linked author: Levy, Harvey
linked information resource: Is melatonin synthesis a new biomarker for the pathogenesis and treatment of phenylketonuria?

Is melatonin synthesis a new biomarker for the pathogenesis and treatment of phenylketonuria?
PubMed Identifier: 23312686
author list: Cederbaum S, Levy HL
published in: The Journal of pediatrics
information resource reference: Is melatonin synthesis a new biomarker for the pathogenesis and treatment of phenylketonuria? J Pediatr. 2013 May; 162(5):893-4.
journal title abbreviation: J Pediatr
publication date: 2013-01-11T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

Phenylketonuria.
PubMed Identifier: 20971365
author list: Blau N, van Spronsen FJ, Levy HL
published in: Lancet (London, England)
information resource reference: Phenylketonuria. Lancet. 2010 Oct 23; 376(9750):1417-27.
journal title abbreviation: Lancet
publication date: 2010-10-23T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1752349
type: Authorship
author rank in publication: 11
linked author: Levy, Harvey
linked information resource: Safety and efficacy of pegtibatinase enzyme replacement therapy in adults with classical homocystinuria in the COMPOSE phase 1/2 randomized trial.

Safety and efficacy of pegtibatinase enzyme replacement therapy in adults with classical homocystinuria in the COMPOSE phase 1/2 randomized trial.
PubMed Identifier: 40382700
author list: Ficicioglu C, Thomas JA, Ganesh J, Kudrow D, Lah M, Smith WE, Güner J, McDermott S, Vaidya SA, Wilkening L, Levy HL
published in: Genetics in medicine : official journal of the American College of Medical Genetics
information resource reference: Safety and efficacy of pegtibatinase enzyme replacement therapy in adults with classical homocystinuria in the COMPOSE phase 1/2 randomized trial. Genet Med. 2025 Aug; 27(8):101456.
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publication date: 2025-05-14T00:00:00
year: 2025
type: Academic Article
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Authorship 699379
type: Authorship
author rank in publication: 3
linked author: Levy, Harvey
linked information resource: Genomics in newborn screening.

Genomics in newborn screening.
PubMed Identifier: 23992678
author list: Landau YE, Lichter-Konecki U, Levy HL
published in: The Journal of pediatrics
information resource reference: Genomics in newborn screening. J Pediatr. 2014 Jan; 164(1):14-9.
journal title abbreviation: J Pediatr
publication date: 2013-08-27T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

Pearl, Phillip
eCommons Login: PLP6
first name: Phillip
last name: Pearl
full name: Phillip Lawrence Pearl, M.D.
has faculty rank: Full Professor
Person ID: 124137
person in primary position: Professor of Neurology
type: Agent
type: Person
preferred title: Professor of Neurology

Authorship 240371
type: Authorship
author rank in publication: 1
linked author: Levy, Harvey
linked information resource: Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study.

Authorship 249558
type: Authorship
author rank in publication: 1
linked author: Levy, Harvey
linked information resource: Congenital heart disease in maternal PKU.

Authorship 300221
type: Authorship
author rank in publication: 2
linked author: Levy, Harvey
linked information resource: Expanded newborn screening using tandem mass spectrometry.

Research Associate in Medicine
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position in department: Medicine
position in division: Oncology
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HR job title: Research Associate in Medicine
position in organization: Dana-Farber Cancer Institute

Authorship 722142
type: Authorship
author rank in publication: 1
linked author: Levy, Harvey
linked information resource: Newborn screening: the genomic challenge.

Newborn screening: the genomic challenge.
PubMed Identifier: 24689069
author list: Levy HL
published in: Molecular genetics & genomic medicine
information resource reference: Newborn screening: the genomic challenge. Mol Genet Genomic Med. 2014 Mar; 2(2):81-4.
journal title abbreviation: Mol Genet Genomic Med
publication date: 2014-03-01T00:00:00
year: 2014
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 731490
type: Authorship
author rank in publication: 27
linked author: Levy, Harvey
linked information resource: Phenylketonuria Scientific Review Conference: state of the science and future research needs.

Phenylketonuria Scientific Review Conference: state of the science and future research needs.
PubMed Identifier: 24667081
author list: Camp KM, Parisi MA, Acosta PB, Berry GT, Bilder DA, Blau N, Bodamer OA, Brosco JP, Brown CS, Burlina AB, Burton BK, Chang CS, Coates PM, Cunningham AC, Dobrowolski SF, Ferguson JH, Franklin TD, Frazier DM, Grange DK, Greene CL, Groft SC, Harding CO, Howell RR, Huntington KL, Hyatt-Knorr HD, Jevaji IP, Levy HL, Lichter-Konecki U, Lindegren ML, Lloyd-Puryear MA, Matalon K, MacDonald A, McPheeters ML, Mitchell JJ, Mofidi S, Moseley KD, Mueller CM, Mulberg AE, Nerurkar LS, Ogata BN, Pariser AR, Prasad S, Pridjian G, Rasmussen SA, Reddy UM, Rohr FJ, Singh RH, Sirrs SM, Stremer SE, Tagle DA, Thompson SM, Urv TK, Utz JR, van Spronsen F, Vockley J, Waisbren SE, Weglicki LS, White DA, Whitley CB, Wilfond BS, Yannicelli S, Young JM
published in: Molecular genetics and metabolism
information resource reference: Phenylketonuria Scientific Review Conference: state of the science and future research needs. Mol Genet Metab. 2014 Jun; 112(2):87-122.
journal title abbreviation: Mol Genet Metab
publication date: 2014-03-06T00:00:00
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Authorship 1817783
type: Authorship
author rank in publication: 1
linked author: Levy, Harvey
linked information resource: A Review of "My Life in Science: The Story of Biotinidase Deficiency" by Dr. Barry Wolf.

Authorship 1827769
type: Authorship
author rank in publication: 9
linked author: Levy, Harvey
linked information resource: Pancreatitis Is an Emerging Rare Complication of Classic Homocystinuria: A Case Series and Literature Review.

Pancreatitis Is an Emerging Rare Complication of Classic Homocystinuria: A Case Series and Literature Review.
PubMed Identifier: 40771008
author list: Aljaberi R, Romo L, Cohen RZ, Mellor T, Steffensen M, Ficicioglu C, Hainline B, Gambello MJ, Levy HL, Li H
published in: American journal of medical genetics. Part A
information resource reference: Pancreatitis Is an Emerging Rare Complication of Classic Homocystinuria: A Case Series and Literature Review. Am J Med Genet A. 2026 Jan; 200(1):155-161.
journal title abbreviation: Am J Med Genet A
publication date: 2025-08-07T00:00:00
year: 2025
type: Academic Article
type: Article
type: Document
type: Information Resource

A Review of "My Life in Science: The Story of Biotinidase Deficiency" by Dr. Barry Wolf.
PubMed Identifier: 41440807
author list: Levy HL
published in: International journal of neonatal screening
information resource reference: A Review of "My Life in Science: The Story of Biotinidase Deficiency" by Dr. Barry Wolf. Int J Neonatal Screen. 2025 Dec 04; 11(4).
journal title abbreviation: Int J Neonatal Screen
publication date: 2025-12-04T00:00:00
year: 2025
type: Academic Article
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type: Information Resource

General Pediatrics
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Lecturer on Pediatrics, Part-time
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HR job title: Lecturer on Pediatrics, Part-time
position in organization: Massachusetts General Hospital

Authorship 363828
type: Authorship
author rank in publication: 1
linked author: Levy, Harvey
linked information resource: Newborn screening conditions: What we know, what we do not know, and how we will know it.

Assistant Professor of Pediatrics
is primary position: true
position in department: Pediatrics
position in division: Genetics
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HR job title: Assistant Professor of Pediatrics
position in organization: Boston Children's Hospital

Mary Ellen Avery Professor of Pediatrics
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position in department: Pediatrics
position in division: General Pediatrics
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HR job title: Mary Ellen Avery Professor of Pediatrics
position in organization: Boston Children's Hospital

Assistant Professor of Pediatrics
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position in department: Pediatrics
position in division: Genetics
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HR job title: Assistant Professor of Pediatrics
position in organization: Boston Children's Hospital

Professor of Neurology
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position in department: Neurology
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
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type: Position
HR job title: Professor of Neurology
position in organization: Boston Children's Hospital

Assistant Professor of Pediatrics
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position in department: Pediatrics
position in division: General Pediatrics
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type: Position
HR job title: Assistant Professor of Pediatrics
position in organization: Boston Children's Hospital

Professor of Pediatrics
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position in department: Pediatrics
position in division: Genetics
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HR job title: Professor of Pediatrics
position in organization: Boston Children's Hospital

Lecturer on Psychology in the Department of Psychiatry, Part-time
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position in organization: Boston Children's Hospital

Associate Professor of Pediatrics
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position in division: Infectious Disease
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position in organization: Boston Children's Hospital

Professor of Pediatrics
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position in organization: Boston Children's Hospital

Professor of Pediatrics
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position in division: Genetics
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position in organization: Boston Children's Hospital

Associate Professor of Pediatrics
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position in department: Pediatrics
position in division: Addiction Medicine
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HR job title: Associate Professor of Pediatrics
position in organization: Boston Children's Hospital

Associate Professor of Pediatrics
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position in department: Pediatrics
position in division: Informatics
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position in organization: Boston Children's Hospital

Aldubayan, Saud
eCommons Login: SHA16
first name: Saud
last name: Aldubayan
full name: Saud H Aldubayan, M.B.,B.S.
has faculty rank: Other Faculty
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person in primary position: Research Associate in Medicine
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Authorship 775695
type: Authorship
author rank in publication: 3
linked author: Levy, Harvey
linked information resource: The complexity of newborn screening follow-up in phenylketonuria.

The complexity of newborn screening follow-up in phenylketonuria.
PubMed Identifier: 25155776
author list: Hecht LE, Wessel AE, Levy HL, Berry GT
published in: JIMD reports
information resource reference: The complexity of newborn screening follow-up in phenylketonuria. JIMD Rep. 2014; 17:37-9.
journal title abbreviation: JIMD Rep
publication date: 2014-08-26T00:00:00
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type: Academic Article
type: Article
type: Document
type: Information Resource

Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation.
PubMed Identifier: 24618664
author list: Wessel AE, Mogensen KM, Rohr F, Erick M, Neilan EG, Chopra S, Levy HL, Gray KJ, Wilkins-Haug L, Berry GT
published in: JPEN. Journal of parenteral and enteral nutrition
information resource reference: Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation. JPEN J Parenter Enteral Nutr. 2015 Sep; 39(7):875-9.
journal title abbreviation: JPEN J Parenter Enteral Nutr
publication date: 2014-03-11T00:00:00
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type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 777856
type: Authorship
author rank in publication: 5
linked author: Levy, Harvey
linked information resource: Adherence to tetrahydrobiopterin therapy in patients with phenylketonuria.

Adherence to tetrahydrobiopterin therapy in patients with phenylketonuria.
PubMed Identifier: 25467057
author list: Rohr F, Wessel A, Brown M, Charette K, Levy HL
published in: Molecular genetics and metabolism
information resource reference: Adherence to tetrahydrobiopterin therapy in patients with phenylketonuria. Mol Genet Metab. 2015 Jan; 114(1):25-8.
journal title abbreviation: Mol Genet Metab
publication date: 2014-10-31T00:00:00
year: 2014
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 518904
type: Authorship
author rank in publication: 7
linked author: Levy, Harvey
linked information resource: Pericardial effusion in primary systemic carnitine deficiency.

Authorship 489762
type: Authorship
author rank in publication: 2
linked author: Levy, Harvey
linked information resource: Expanded screening of newborns for genetic disorders.

Authorship 460121
type: Authorship
author rank in publication: 6
linked author: Levy, Harvey
linked information resource: Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome.

Authorship 352720
type: Authorship
author rank in publication: 1
linked author: Levy, Harvey
linked information resource: Pregnancy experiences in the woman with mild hyperphenylalaninemia.

Authorship 203252
type: Authorship
author rank in publication: 4
linked author: Levy, Harvey
linked information resource: Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12.

Authorship 409115
type: Authorship
author rank in publication: 2
linked author: Levy, Harvey
linked information resource: The use of betaine in the treatment of elevated homocysteine.

Authorship 511045
type: Authorship
author rank in publication: 7
linked author: Levy, Harvey
linked information resource: Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis.

Authorship 802286
type: Authorship
author rank in publication: 2
linked author: Levy, Harvey
linked information resource: Hyperphenylalaninemia and the genomic revolution.

Hyperphenylalaninemia and the genomic revolution.
PubMed Identifier: 25549965
author list: Rajabi F, Levy HL
published in: Molecular genetics and metabolism
information resource reference: Hyperphenylalaninemia and the genomic revolution. Mol Genet Metab. 2015 Mar; 114(3):380-1.
journal title abbreviation: Mol Genet Metab
publication date: 2014-12-20T00:00:00
year: 2014
type: Academic Article
type: Article
type: Document
type: Information Resource

Informatics
type: Division
type: Organization

Authorship 353792
type: Authorship
author rank in publication: 3
linked author: Levy, Harvey
linked information resource: A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders.

Authorship 411308
type: Authorship
author rank in publication: 4
linked author: Levy, Harvey
linked information resource: Neonatal screening for medium--chain acyl-CoA dehydrogenase deficiency.

Authorship 451857
type: Authorship
author rank in publication: 6
linked author: Levy, Harvey
linked information resource: Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening.

Authorship 825937
type: Authorship
author rank in publication: 7
linked author: Levy, Harvey
linked information resource: Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation.

Authorship 414540
type: Authorship
author rank in publication: 3
linked author: Levy, Harvey
linked information resource: The Maternal Phenylketonuria International Study: 1984-2002.

Authorship 453861
type: Authorship
author rank in publication: 4
linked author: Levy, Harvey
linked information resource: Krabbe disease: severe neonatal presentation with a family history of multiple sclerosis.

Sacharow, Stephanie
eCommons Login: SS830
first name: Stephanie
last name: Sacharow
full name: Stephanie Sacharow, M.D.
has faculty rank: Assistant Professor
Person ID: 145187
person in primary position: Assistant Professor of Pediatrics
type: Agent
type: Person
preferred title: Assistant Professor of Pediatrics

Authorship 888196
type: Authorship
author rank in publication: 1
linked author: Levy, Harvey
linked information resource: The remarkable S. Harvey Mudd - A reminiscence.

The remarkable S. Harvey Mudd - A reminiscence.
PubMed Identifier: 27177696
author list: Levy HL
published in: Molecular genetics and metabolism
information resource reference: The remarkable S. Harvey Mudd - A reminiscence. Mol Genet Metab. 2016 07; 118(3):143-144.
journal title abbreviation: Mol Genet Metab
publication date: 2016-04-27T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Assistant Professor
sort order: 2
type: Faculty Rank

Associate Professor
sort order: 1
type: Faculty Rank

Full Professor
sort order: 0
type: Faculty Rank

Lecturer
sort order: 3
type: Faculty Rank

Other Faculty
sort order: 5
type: Faculty Rank

Authorship 83682
type: Authorship
author rank in publication: 5
linked author: Levy, Harvey
linked information resource: Brief report: Predictors of parenting stress among parents of children with biochemical genetic disorders.

Authorship 895526
type: Authorship
author rank in publication: 7
linked author: Levy, Harvey
linked information resource: Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial.

Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial.
PubMed Identifier: 27413125
author list: Ney DM, Stroup BM, Clayton MK, Murali SG, Rice GM, Rohr F, Levy HL
published in: The American journal of clinical nutrition
information resource reference: Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial. Am J Clin Nutr. 2016 Aug; 104(2):334-45.
journal title abbreviation: Am J Clin Nutr
publication date: 2016-07-13T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 529754
type: Authorship
author rank in publication: 8
linked author: Levy, Harvey
linked information resource: Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles.

General Clinical Research Center
end date: 2009-03-31
principal investigator name: MANDELL, JAMES WILLIAM
start date: 1983-01-01
type: Grant
sponsor award id: M01RR002172

Phase 2 Study of Glycomacropeptide vs. Amino Acid Diet for the Management of PKU
end date: 2017-07-31
principal investigator name: NEY, DENISE M
start date: 2011-08-15
type: Grant
sponsor award id: R01FD003711

INTERNATIONAL CONGRESS--INBORN ERRORS OF METABOLISM
end date: 1991-04-30
principal investigator name: LEVY, HARVEY L.
start date: 1990-05-01
type: Grant
sponsor award id: R13DK042508

EFFECTS OF MATERNAL PKU ON PREGNANCY OUTCOME
end date: 1991-05-15
principal investigator name: LEVY, HARVEY L.
start date: 1984-05-16
type: Grant
sponsor award id: N01HD042809

Maternal PKU-275023149
end date: 1900-01-01
start date: 1900-01-01
type: Grant
sponsor award id: N01HD023149

Maternal PKU-275023155
end date: 1900-01-01
start date: 1900-01-01
type: Grant
sponsor award id: N01HD023155

Principal Investigator
type: Researcher Role
researcher role of: Levy, Harvey
contributes to: INTERNATIONAL CONGRESS--INBORN ERRORS OF METABOLISM

Principal Investigator
type: Researcher Role
researcher role of: Levy, Harvey
contributes to: Phase 2 Study of Glycomacropeptide vs. Amino Acid Diet for the Management of PKU

Co-Principal Investigator
type: Researcher Role
researcher role of: Levy, Harvey
contributes to: Maternal PKU-275023155

Co-Principal Investigator
type: Researcher Role
researcher role of: Levy, Harvey
contributes to: General Clinical Research Center

Co-Principal Investigator
type: Researcher Role
researcher role of: Levy, Harvey
contributes to: Maternal PKU-275023149

Principal Investigator
type: Researcher Role
researcher role of: Levy, Harvey
contributes to: EFFECTS OF MATERNAL PKU ON PREGNANCY OUTCOME

One Autumn Street
type: Address
address line 1: Children's Hospital
address line 2: 5th Floor
address line 3: One Autumn Street
city: Boston
postal code: 02215
state or province: MA

Authorship 935367
type: Authorship
author rank in publication: 4
linked author: Levy, Harvey
linked information resource: Confounding factors in identification of disease-resilient individuals.

Confounding factors in identification of disease-resilient individuals.
PubMed Identifier: 27824855
author list: Rosenblatt DS, Watkins D, Rajabi F, Levy HL
published in: Nature biotechnology
information resource reference: Confounding factors in identification of disease-resilient individuals. Nat Biotechnol. 2016 11 08; 34(11):1103-1104.
journal title abbreviation: Nat Biotechnol
publication date: 2016-11-08T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 93171
type: Authorship
author rank in publication: 2
linked author: Levy, Harvey
linked information resource: Newborn screening of lysosomal storage disorders.

Authorship 262055
type: Authorship
author rank in publication: 17
linked author: Levy, Harvey
linked information resource: Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress.

Authorship 948247
type: Authorship
author rank in publication: 4
linked author: Levy, Harvey
linked information resource: Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.

Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
PubMed Identifier: 28054209
author list: Landau YE, Waisbren SE, Chan LM, Levy HL
published in: Journal of inherited metabolic disease
information resource reference: Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease. J Inherit Metab Dis. 2017 03; 40(2):209-218.
journal title abbreviation: J Inherit Metab Dis
publication date: 2017-01-04T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 953800
type: Authorship
author rank in publication: 4
linked author: Levy, Harvey
linked information resource: Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia.

Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia.
PubMed Identifier: 28141776
author list: Aldubayan SH, Rodan LH, Berry GT, Levy HL
published in: Pediatric emergency care
information resource reference: Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia. Pediatr Emerg Care. 2017 Feb; 33(2):142-146.
journal title abbreviation: Pediatr Emerg Care
publication date: 2017-02-01T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Historical background for the maternal PKU syndrome.
PubMed Identifier: 14654656
author list: Levy HL
published in: Pediatrics
information resource reference: Historical background for the maternal PKU syndrome. Pediatrics. 2003 Dec; 112(6 Pt 2):1516-8.
journal title abbreviation: Pediatrics
publication date: 2003-12-01T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Lessons from the past--looking to the future. Newborn screening.
PubMed Identifier: 12942892
author list: Levy HL
published in: Pediatric annals
information resource reference: Lessons from the past--looking to the future. Newborn screening. Pediatr Ann. 2003 Aug; 32(8):505-8.
journal title abbreviation: Pediatr Ann
publication date: 2003-08-01T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 973794
type: Authorship
author rank in publication: 4
linked author: Levy, Harvey
linked information resource: Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders.

Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders.
PubMed Identifier: 28353532
author list: Aldubayan SH, Rodan LH, Berry GT, Levy HL
published in: Pediatric emergency care
information resource reference: Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders. Pediatr Emerg Care. 2017 Apr; 33(4):296-301.
journal title abbreviation: Pediatr Emerg Care
publication date: 2017-04-01T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 977009
type: Authorship
author rank in publication: 7
linked author: Levy, Harvey
linked information resource: Metabolomic changes demonstrate reduced bioavailability of tyrosine and altered metabolism of tryptophan via the kynurenine pathway with ingestion of medical foods in phenylketonuria.

Metabolomic changes demonstrate reduced bioavailability of tyrosine and altered metabolism of tryptophan via the kynurenine pathway with ingestion of medical foods in phenylketonuria.
PubMed Identifier: 28400091
author list: Ney DM, Murali SG, Stroup BM, Nair N, Sawin EA, Rohr F, Levy HL
published in: Molecular genetics and metabolism
information resource reference: Metabolomic changes demonstrate reduced bioavailability of tyrosine and altered metabolism of tryptophan via the kynurenine pathway with ingestion of medical foods in phenylketonuria. Mol Genet Metab. 2017 06; 121(2):96-103.
journal title abbreviation: Mol Genet Metab
publication date: 2017-04-06T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Krabbe disease: severe neonatal presentation with a family history of multiple sclerosis.
PubMed Identifier: 16417879
author list: Sahai I, Baris H, Kimonis V, Levy HL
published in: Journal of child neurology
information resource reference: Krabbe disease: severe neonatal presentation with a family history of multiple sclerosis. J Child Neurol. 2005 Oct; 20(10):826-8.
journal title abbreviation: J Child Neurol
publication date: 2005-10-01T00:00:00
year: 2005
type: Academic Article
type: Article
type: Document
type: Information Resource

Neonatal screening for medium--chain acyl-CoA dehydrogenase deficiency.
PubMed Identifier: 11867144
author list: Fowler DJ, Picker J, Waisbren SE, Levy HL
published in: Lancet (London, England)
information resource reference: Neonatal screening for medium--chain acyl-CoA dehydrogenase deficiency. Lancet. 2002 Feb 16; 359(9306):628.
journal title abbreviation: Lancet
publication date: 2002-02-16T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress.
PubMed Identifier: 14625333
author list: Waisbren SE, Albers S, Amato S, Ampola M, Brewster TG, Demmer L, Eaton RB, Greenstein R, Korson M, Larson C, Marsden D, Msall M, Naylor EW, Pueschel S, Seashore M, Shih VE, Levy HL
published in: JAMA
information resource reference: Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA. 2003 Nov 19; 290(19):2564-72.
journal title abbreviation: JAMA
publication date: 2003-11-19T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Brief report: Predictors of parenting stress among parents of children with biochemical genetic disorders.
PubMed Identifier: 15347704
author list: Waisbren SE, Rones M, Read CY, Marsden D, Levy HL
published in: Journal of pediatric psychology
information resource reference: Brief report: Predictors of parenting stress among parents of children with biochemical genetic disorders. J Pediatr Psychol. 2004 Oct; 29(7):565-70.
journal title abbreviation: J Pediatr Psychol
publication date: 2004-10-01T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource

Pregnancy experiences in the woman with mild hyperphenylalaninemia.
PubMed Identifier: 14654663
author list: Levy HL, Waisbren SE, Güttler F, Hanley WB, Matalon R, Rouse B, Trefz FK, de la Cruz F, Azen CG, Koch R
published in: Pediatrics
information resource reference: Pregnancy experiences in the woman with mild hyperphenylalaninemia. Pediatrics. 2003 Dec; 112(6 Pt 2):1548-52.
journal title abbreviation: Pediatrics
publication date: 2003-12-01T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Expanded newborn screening using tandem mass spectrometry.
PubMed Identifier: 14626484
author list: Fearing MK, Levy HL
published in: Advances in pediatrics
information resource reference: Expanded newborn screening using tandem mass spectrometry. Adv Pediatr. 2003; 50:81-111.
journal title abbreviation: Adv Pediatr
publication date: 2003-01-01T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 993349
type: Authorship
author rank in publication: 6
linked author: Levy, Harvey
linked information resource: https://connects.catalyst.harvard.edu/Profiles/profile/84204585

https://connects.catalyst.harvard.edu/Profiles/profile/84204585
PubMed Identifier: 28664173
author list: Stroup BM, Murali SG, Nair N, Sawin EA, Rohr F, Levy HL, Ney DM
published in: Data in brief
information resource reference: Dietary amino acid intakes associated with a low-phenylalanine diet combined with amino acid medical foods and glycomacropeptide medical foods and neuropsychological outcomes in subjects with phenylketonuria. Data Brief. 2017 Aug; 13:377-384.
journal title abbreviation: Data Brief
publication date: 2017-06-07T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource
label: Dietary amino acid intakes associated with a low-phenylalanine diet combined with amino acid medical foods and glycomacropeptide medical foods and neuropsychological outcomes in subjects with phenylketonuria.

The adult galactosemic phenotype.
PubMed Identifier: 21779791
author list: Waisbren SE, Potter NL, Gordon CM, Green RC, Greenstein P, Gubbels CS, Rubio-Gozalbo E, Schomer D, Welt C, Anastasoaie V, D'Anna K, Gentile J, Guo CY, Hecht L, Jackson R, Jansma BM, Li Y, Lip V, Miller DT, Murray M, Power L, Quinn N, Rohr F, Shen Y, Skinder-Meredith A, Timmers I, Tunick R, Wessel A, Wu BL, Levy H, Elsas L, Berry GT
published in: Journal of inherited metabolic disease
information resource reference: The adult galactosemic phenotype. J Inherit Metab Dis. 2012 Mar; 35(2):279-86.
journal title abbreviation: J Inherit Metab Dis
publication date: 2011-07-21T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study.
PubMed Identifier: 17693179
author list: Levy HL, Milanowski A, Chakrapani A, Cleary M, Lee P, Trefz FK, Whitley CB, Feillet F, Feigenbaum AS, Bebchuk JD, Christ-Schmidt H, Dorenbaum A
published in: Lancet (London, England)
information resource reference: Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study. Lancet. 2007 Aug 11; 370(9586):504-10.
journal title abbreviation: Lancet
publication date: 2007-08-11T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH).
PubMed Identifier: 12948742
author list: Toone JR, Applegarth DA, Levy HL, Coulter-Mackie MB, Lee G
published in: Molecular genetics and metabolism
information resource reference: Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH). Mol Genet Metab. 2003 Aug; 79(4):272-80.
journal title abbreviation: Mol Genet Metab
publication date: 2003-08-01T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

The use of betaine in the treatment of elevated homocysteine.
PubMed Identifier: 16545978
author list: Lawson-Yuen A, Levy HL
published in: Molecular genetics and metabolism
information resource reference: The use of betaine in the treatment of elevated homocysteine. Mol Genet Metab. 2006 Jul; 88(3):201-7.
journal title abbreviation: Mol Genet Metab
publication date: 2006-03-20T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap.
PubMed Identifier: 12765841
author list: Harvey Mudd S, Braverman N, Pomper M, Tezcan K, Kronick J, Jayakar P, Garganta C, Ampola MG, Levy HL, McCandless SE, Wiltse H, Stabler SP, Allen RH, Wagner C, Borschel MW
published in: Molecular genetics and metabolism
information resource reference: Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap. Mol Genet Metab. 2003 May; 79(1):6-16.
journal title abbreviation: Mol Genet Metab
publication date: 2003-05-01T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12.
PubMed Identifier: 16574454
author list: Smith SE, Kinney HC, Swoboda KJ, Levy HL
published in: Molecular genetics and metabolism
information resource reference: Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12. Mol Genet Metab. 2006 Jun; 88(2):138-45.
journal title abbreviation: Mol Genet Metab
publication date: 2006-03-30T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Newborn screening of lysosomal storage disorders.
PubMed Identifier: 20489136
author list: Marsden D, Levy H
published in: Clinical chemistry
information resource reference: Newborn screening of lysosomal storage disorders. Clin Chem. 2010 Jul; 56(7):1071-9.
journal title abbreviation: Clin Chem
publication date: 2010-05-20T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1023560
type: Authorship
author rank in publication: 4
linked author: Levy, Harvey
linked information resource: Acute Illness Protocol for Maple Syrup Urine Disease.

Acute Illness Protocol for Maple Syrup Urine Disease.
PubMed Identifier: 29095391
author list: Rodan LH, Aldubayan SH, Berry GT, Levy HL
published in: Pediatric emergency care
information resource reference: Acute Illness Protocol for Maple Syrup Urine Disease. Pediatr Emerg Care. 2018 Jan; 34(1):64-67.
journal title abbreviation: Pediatr Emerg Care
publication date: 2018-01-01T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1026834
type: Authorship
author rank in publication: 4
linked author: Levy, Harvey
linked information resource: Acute Illness Protocol for Urea Cycle Disorders.

Acute Illness Protocol for Urea Cycle Disorders.
PubMed Identifier: 29135898
author list: Rodan LH, Aldubayan SH, Berry GT, Levy HL
published in: Pediatric emergency care
information resource reference: Acute Illness Protocol for Urea Cycle Disorders. Pediatr Emerg Care. 2018 Jun; 34(6):e115-e119.
journal title abbreviation: Pediatr Emerg Care
publication date: 2018-06-01T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Research design, organization, and sample characteristics of the Maternal PKU Collaborative Study.
PubMed Identifier: 14654657
author list: Koch R, Azen C, Friedman E, Hanley W, Levy H, Matalon R, Rouse B, Trefz F, Ning J, de la Cruz F
published in: Pediatrics
information resource reference: Research design, organization, and sample characteristics of the Maternal PKU Collaborative Study. Pediatrics. 2003 Dec; 112(6 Pt 2):1519-22.
journal title abbreviation: Pediatrics
publication date: 2003-12-01T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Fetal fatty acid oxidation defects and maternal liver disease in pregnancy.
PubMed Identifier: 16394048
author list: Browning MF, Levy HL, Wilkins-Haug LE, Larson C, Shih VE
published in: Obstetrics and gynecology
information resource reference: Fetal fatty acid oxidation defects and maternal liver disease in pregnancy. Obstet Gynecol. 2006 Jan; 107(1):115-20.
journal title abbreviation: Obstet Gynecol
publication date: 2006-01-01T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Pericardial effusion in primary systemic carnitine deficiency.
PubMed Identifier: 16830263
author list: Wattanasirichaigoon D, Khowsathit P, Visudtibhan A, Suthutvoravut U, Charoenpipop D, Kim SZ, Levy HL, Shih VE
published in: Journal of inherited metabolic disease
information resource reference: Pericardial effusion in primary systemic carnitine deficiency. J Inherit Metab Dis. 2006 Aug; 29(4):589.
journal title abbreviation: J Inherit Metab Dis
publication date: 2006-07-08T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Newborn screening conditions: What we know, what we do not know, and how we will know it.
PubMed Identifier: 21150366
author list: Levy HL
published in: Genetics in medicine : official journal of the American College of Medical Genetics
information resource reference: Newborn screening conditions: What we know, what we do not know, and how we will know it. Genet Med. 2010 Dec; 12(12 Suppl):S213-4.
journal title abbreviation: Genet Med
publication date: 2010-12-01T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

The Maternal Phenylketonuria International Study: 1984-2002.
PubMed Identifier: 14654658
author list: Koch R, Hanley W, Levy H, Matalon K, Matalon R, Rouse B, Trefz F, Güttler F, Azen C, Platt L, Waisbren S, Widaman K, Ning J, Friedman EG, de la Cruz F
published in: Pediatrics
information resource reference: The Maternal Phenylketonuria International Study: 1984-2002. Pediatrics. 2003 Dec; 112(6 Pt 2):1523-9.
journal title abbreviation: Pediatrics
publication date: 2003-12-01T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 100290
type: Authorship
author rank in publication: 5
linked author: Levy, Harvey
linked information resource: Research design, organization, and sample characteristics of the Maternal PKU Collaborative Study.