Stroup BM, Ney DM, Murali SG, Rohr F, Gleason ST, van Calcar SC, Levy HL
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.
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.
Stroup BM, Nair N, Murali SG, Broniowska K, Rohr F, Levy HL, Ney DM
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.
Metabolomic Markers of Essential Fatty Acids, Carnitine, and Cholesterol Metabolism in Adults and Adolescents with Phenylketonuria.
Picker JD, Puga AC, Levy HL, Marsden D, Shih VE, Degirolami U, Ligon KL, Cederbaum SD, Kern RM, Cox GF
Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema. J Pediatr. 2003 Mar; 142(3):349-52.
Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema.
Güttler F, Azen C, Guldberg P, Romstad A, Hanley WB, Levy HL, Matalon R, Rouse BM, Trefz F, de la Cruz F, Koch R
Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome. Pediatrics. 2003 Dec; 112(6 Pt 2):1530-3.
Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome.
Waisbren SE, Noel K, Fahrbach K, Cella C, Frame D, Dorenbaum A, Levy H
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.
Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis.
Dobrowolski SF, Ellingson C, Coyne T, Grey J, Martin R, Naylor EW, Koch R, Levy HL
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.
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.
Phenylalanine ammonia lyase (PAL): From discovery to enzyme substitution therapy for phenylketonuria. Mol Genet Metab. 2018 08; 124(4):223-229.
Phenylalanine ammonia lyase (PAL): From discovery to enzyme substitution therapy for phenylketonuria.
Expanded screening of newborns for genetic disorders. JAMA. 2004 Feb 18; 291(7):820-1; author reply 821.
Expanded screening of newborns for genetic disorders.
Newborn screening for metabolic disorders. J Pediatr. 2006 May; 148(5):577-584.
Newborn screening for metabolic disorders.
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
The BabySeq project: implementing genomic sequencing in newborns. BMC Pediatr. 2018 07 09; 18(1):225.
The BabySeq project: implementing genomic sequencing in newborns.
Mental retardation and developmental disabilities research reviews
The clinical aspects of newborn screening: importance of newborn screening follow-up. Ment Retard Dev Disabil Res Rev. 2006; 12(4):246-54.
The clinical aspects of newborn screening: importance of newborn screening follow-up.
Congenital heart disease in maternal PKU. Mol Genet Metab. 2012 Dec; 107(4):648-9.
Congenital heart disease in maternal PKU.
Metabolic disorders in the center of genetic medicine. N Engl J Med. 2005 Nov 03; 353(18):1968-70.
Metabolic disorders in the center of genetic medicine.
Levy H, Burton B, Cederbaum S, Scriver C
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.
Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment.
Almuqbil MA, Waisbren SE, Levy HL, Picker JD
Genetics in medicine : official journal of the American College of Medical Genetics
Revising the Psychiatric Phenotype of Homocystinuria. Genet Med. 2019 08; 21(8):1827-1831.
Revising the Psychiatric Phenotype of Homocystinuria.
Yusupov R, Finegold DN, Naylor EW, Sahai I, Waisbren S, Levy HL
Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening. Mol Genet Metab. 2010 Sep; 101(1):33-9.
Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening.
Saranjam H, Chopra SS, Levy H, Stubblefield BK, Maniwang E, Cohen IJ, Baris H, Sidransky E, Tayebi N
European journal of human genetics : EJHG
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.
A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders.
Demirbas D, Huang X, Daesety V, Feenstra S, Haskovic M, Qi W, Gubbels CS, Hecht L, Levy HL, Waisbren SE, Berry GT
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.
The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.
Lecturer on Psychology in the Department of Psychiatry, Part-time
Demirbas D, Harris DJ, Arn PH, Huang X, Waisbren SE, Anselm I, Lerner-Ellis JP, Wong LJ, Levy HL, Berry GT
Phenotypic variability in deficiency of the a subunit of succinate-CoA ligase. JIMD Rep. 2019 Mar; 46(1):63-69.
Phenotypic variability in deficiency of the a subunit of succinate-CoA ligase.
Rajabi F, Rohr F, Wessel A, Martell L, Dobrowolski SF, Guldberg P, Güttler F, Levy HL
Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study. Mol Genet Metab. 2019 12; 128(4):415-421.
Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study.
Can Newborn Screening for Vitamin B12 Deficiency be Incorporated into All Newborn Screening Programs? J Pediatr. 2020 01; 216:9-11.e1.
Can Newborn Screening for Vitamin B12 Deficiency be Incorporated into All Newborn Screening Programs?
Rohr F, Kritzer A, Harding CO, Viau K, Levy HL
Molecular genetics and metabolism reports
Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report. Mol Genet Metab Rep. 2020 Mar; 22:100555.
Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report.
Glinton KE, Levy HL, Kennedy AD, Pappan KL, Elsea SH
Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1. Mol Genet Metab Rep. 2019 Mar; 18:14-18.
Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1.
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
The Genetic Landscape and Epidemiology of Phenylketonuria. Am J Hum Genet. 2020 08 06; 107(2):234-250.
The Genetic Landscape and Epidemiology of Phenylketonuria.
International journal of neonatal screening
Ethical and Psychosocial Implications of Genomic Newborn Screening. Int J Neonatal Screen. 2021 Jan 09; 7(1).
Ethical and Psychosocial Implications of Genomic Newborn Screening.
Robert Guthrie and the Trials and Tribulations of Newborn Screening. Int J Neonatal Screen. 2021 Jan 19; 7(1).
Robert Guthrie and the Trials and Tribulations of Newborn Screening.
Hwang WJ, Lim HH, Kim YM, Chang MY, Kil HR, Kim JY, Song WJ, Levy HL, Kim SZ
Pancreatic involvement in patients with inborn errors of metabolism. Orphanet J Rare Dis. 2021 01 20; 16(1):37.
Pancreatic involvement in patients with inborn errors of metabolism.
Early Development of Newborn Screening for HCU and Current Challenges. Int J Neonatal Screen. 2021 Oct 25; 7(4).
Early Development of Newborn Screening for HCU and Current Challenges.
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
The hypergonadotropic hypogonadism conundrum of classic galactosemia. Hum Reprod Update. 2023 03 01; 29(2):246-258.
The hypergonadotropic hypogonadism conundrum of classic galactosemia.
Sarkissian CN, Scriver PP, Prevost L, Levy HL
Charles Scriver: Epitome of the physician scientist. Mol Genet Metab. 2022 Dec; 137(4):388-398.
Charles Scriver: Epitome of the physician scientist.
Is More Effective Newborn Screening for Homocystinuria on the Horizon? Clin Chem. 2023 04 28; 69(5):433-434.
Is More Effective Newborn Screening for Homocystinuria on the Horizon?
Mary Ellen Avery Professor of Pediatrics
In memoriam: Charles Robert Scriver, CM, CC, GOQ, FRS, FRSC (1930-2023). J Inherit Metab Dis. 2023 Jul; 46(4):756-757.
In memoriam: Charles Robert Scriver, CM, CC, GOQ, FRS, FRSC (1930-2023).
Alghamdi MA, O'Donnell-Luria A, Almontashiri NA, AlAali WY, Ali HH, Levy HL
Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman. JIMD Rep. 2023 Sep; 64(5):312-316.
Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman.
Vos EN, Demirbas D, Mangel M, Rubio-Gozalbo ME, Levy HL, Berry GT
The treatment of biochemical genetic diseases: From substrate reduction to nucleic acid therapies. Mol Genet Metab. 2023 11; 140(3):107693.
The treatment of biochemical genetic diseases: From substrate reduction to nucleic acid therapies.
Past as Prologue: Predicting Potential Psychosocial-Ethical Burdens of Positive Newborn Screens as Conditions Propagate. Int J Neonatal Screen. 2024 Feb 06; 10(1).
Past as Prologue: Predicting Potential Psychosocial-Ethical Burdens of Positive Newborn Screens as Conditions Propagate.
Is melatonin synthesis a new biomarker for the pathogenesis and treatment of phenylketonuria? J Pediatr. 2013 May; 162(5):893-4.
Is melatonin synthesis a new biomarker for the pathogenesis and treatment of phenylketonuria?
Ficicioglu C, Thomas JA, Ganesh J, Kudrow D, Lah M, Smith WE, Güner J, McDermott S, Vaidya SA, Wilkening L, Levy HL
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.
Safety and efficacy of pegtibatinase enzyme replacement therapy in adults with classical homocystinuria in the COMPOSE phase 1/2 randomized trial.
Genomics in newborn screening. J Pediatr. 2014 Jan; 164(1):14-9.
Newborn screening: the genomic challenge. Mol Genet Genomic Med. 2014 Mar; 2(2):81-4.
Newborn screening: the genomic challenge.
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
Phenylketonuria Scientific Review Conference: state of the science and future research needs. Mol Genet Metab. 2014 Jun; 112(2):87-122.
Phenylketonuria Scientific Review Conference: state of the science and future research needs.
Aljaberi R, Romo L, Cohen RZ, Mellor T, Steffensen M, Ficicioglu C, Hainline B, Gambello MJ, Levy HL, Li H
American journal of medical genetics. Part A
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.
Pancreatitis Is an Emerging Rare Complication of Classic Homocystinuria: A Case Series and Literature Review.
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).
A Review of "My Life in Science: The Story of Biotinidase Deficiency" by Dr. Barry Wolf.
The complexity of newborn screening follow-up in phenylketonuria. JIMD Rep. 2014; 17:37-9.
The complexity of newborn screening follow-up in phenylketonuria.
Wessel AE, Mogensen KM, Rohr F, Erick M, Neilan EG, Chopra S, Levy HL, Gray KJ, Wilkins-Haug L, Berry GT
JPEN. Journal of parenteral and enteral nutrition
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.
Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation.
Rohr F, Wessel A, Brown M, Charette K, Levy HL
Adherence to tetrahydrobiopterin therapy in patients with phenylketonuria. Mol Genet Metab. 2015 Jan; 114(1):25-8.
Adherence to tetrahydrobiopterin therapy in patients with phenylketonuria.
Hyperphenylalaninemia and the genomic revolution. Mol Genet Metab. 2015 Mar; 114(3):380-1.
Hyperphenylalaninemia and the genomic revolution.
The remarkable S. Harvey Mudd - A reminiscence. Mol Genet Metab. 2016 07; 118(3):143-144.
The remarkable S. Harvey Mudd - A reminiscence.
Ney DM, Stroup BM, Clayton MK, Murali SG, Rice GM, Rohr F, Levy HL
The American journal of clinical nutrition
Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial. Am J Clin Nutr. 2016 Aug; 104(2):334-45.
Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial.
Phase 2 Study of Glycomacropeptide vs. Amino Acid Diet for the Management of PKU
INTERNATIONAL CONGRESS--INBORN ERRORS OF METABOLISM
EFFECTS OF MATERNAL PKU ON PREGNANCY OUTCOME
Rosenblatt DS, Watkins D, Rajabi F, Levy HL
Confounding factors in identification of disease-resilient individuals. Nat Biotechnol. 2016 11 08; 34(11):1103-1104.
Confounding factors in identification of disease-resilient individuals.
Landau YE, Waisbren SE, Chan LM, Levy HL
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.
Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
Aldubayan SH, Rodan LH, Berry GT, Levy HL
Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia. Pediatr Emerg Care. 2017 Feb; 33(2):142-146.
Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia.
Historical background for the maternal PKU syndrome. Pediatrics. 2003 Dec; 112(6 Pt 2):1516-8.
Historical background for the maternal PKU syndrome.
Lessons from the past--looking to the future. Newborn screening. Pediatr Ann. 2003 Aug; 32(8):505-8.
Lessons from the past--looking to the future. Newborn screening.
Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders. Pediatr Emerg Care. 2017 Apr; 33(4):296-301.
Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders.
Ney DM, Murali SG, Stroup BM, Nair N, Sawin EA, Rohr F, Levy HL
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.
Metabolomic changes demonstrate reduced bioavailability of tyrosine and altered metabolism of tryptophan via the kynurenine pathway with ingestion of medical foods in phenylketonuria.
Krabbe disease: severe neonatal presentation with a family history of multiple sclerosis. J Child Neurol. 2005 Oct; 20(10):826-8.
Krabbe disease: severe neonatal presentation with a family history of multiple sclerosis.
Fowler DJ, Picker J, Waisbren SE, Levy HL
Neonatal screening for medium--chain acyl-CoA dehydrogenase deficiency. Lancet. 2002 Feb 16; 359(9306):628.
Neonatal screening for medium--chain acyl-CoA dehydrogenase deficiency.
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
Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA. 2003 Nov 19; 290(19):2564-72.
Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress.
Waisbren SE, Rones M, Read CY, Marsden D, Levy HL
Brief report: Predictors of parenting stress among parents of children with biochemical genetic disorders. J Pediatr Psychol. 2004 Oct; 29(7):565-70.
Brief report: Predictors of parenting stress among parents of children with biochemical genetic disorders.
Levy HL, Waisbren SE, Güttler F, Hanley WB, Matalon R, Rouse B, Trefz FK, de la Cruz F, Azen CG, Koch R
Pregnancy experiences in the woman with mild hyperphenylalaninemia. Pediatrics. 2003 Dec; 112(6 Pt 2):1548-52.
Pregnancy experiences in the woman with mild hyperphenylalaninemia.
Expanded newborn screening using tandem mass spectrometry. Adv Pediatr. 2003; 50:81-111.
Expanded newborn screening using tandem mass spectrometry.
Stroup BM, Murali SG, Nair N, Sawin EA, Rohr F, Levy HL, Ney DM
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.
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.
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
The adult galactosemic phenotype. J Inherit Metab Dis. 2012 Mar; 35(2):279-86.
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
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.
Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study.
Toone JR, Applegarth DA, Levy HL, Coulter-Mackie MB, Lee G
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.
Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH).
The use of betaine in the treatment of elevated homocysteine. Mol Genet Metab. 2006 Jul; 88(3):201-7.
The use of betaine in the treatment of elevated homocysteine.
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
Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap. Mol Genet Metab. 2003 May; 79(1):6-16.
Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap.
Smith SE, Kinney HC, Swoboda KJ, Levy HL
Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12. Mol Genet Metab. 2006 Jun; 88(2):138-45.
Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12.
Newborn screening of lysosomal storage disorders. Clin Chem. 2010 Jul; 56(7):1071-9.
Newborn screening of lysosomal storage disorders.
Rodan LH, Aldubayan SH, Berry GT, Levy HL
Acute Illness Protocol for Maple Syrup Urine Disease. Pediatr Emerg Care. 2018 Jan; 34(1):64-67.
Acute Illness Protocol for Maple Syrup Urine Disease.
Acute Illness Protocol for Urea Cycle Disorders. Pediatr Emerg Care. 2018 Jun; 34(6):e115-e119.
Acute Illness Protocol for Urea Cycle Disorders.
Koch R, Azen C, Friedman E, Hanley W, Levy H, Matalon R, Rouse B, Trefz F, Ning J, de la Cruz F
Research design, organization, and sample characteristics of the Maternal PKU Collaborative Study. Pediatrics. 2003 Dec; 112(6 Pt 2):1519-22.
Research design, organization, and sample characteristics of the Maternal PKU Collaborative Study.
Browning MF, Levy HL, Wilkins-Haug LE, Larson C, Shih VE
Fetal fatty acid oxidation defects and maternal liver disease in pregnancy. Obstet Gynecol. 2006 Jan; 107(1):115-20.
Fetal fatty acid oxidation defects and maternal liver disease in pregnancy.
Wattanasirichaigoon D, Khowsathit P, Visudtibhan A, Suthutvoravut U, Charoenpipop D, Kim SZ, Levy HL, Shih VE
Pericardial effusion in primary systemic carnitine deficiency. J Inherit Metab Dis. 2006 Aug; 29(4):589.
Pericardial effusion in primary systemic carnitine deficiency.
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.
Newborn screening conditions: What we know, what we do not know, and how we will know it.
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
The Maternal Phenylketonuria International Study: 1984-2002. Pediatrics. 2003 Dec; 112(6 Pt 2):1523-9.
The Maternal Phenylketonuria International Study: 1984-2002.