Harvard Catalyst Profiles

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Deborah L. Marsden, M.B.,B.S.


The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. M01RR002172 (MANDELL, JAMES WILLIAM) Jan 1, 1983 - Mar 31, 2009
    General Clinical Research Center
    Role: Co-Principal Investigator
  2. M01RR000827 (BRENNER, DAVID A) Mar 1, 1974 - Nov 30, 2010
    General Clinical Research Center
    Role: Co-Principal Investigator

Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Kruger E, McNiven P, Marsden D. Estimating the Prevalence of Rare Diseases: Long-Chain Fatty Acid Oxidation Disorders as an Illustrative Example. Adv Ther. 2022 07; 39(7):3361-3377. PMID: 35674971; PMCID: PMC9239941.
    Citations:    Fields:    Translation:HumansCells
  2. Vockley J, Enns GM, Ramirez AN, Bedrosian CL, Reineking B, Lu X, Ray K, Rahman S, Marsden D. Response to triheptanoin therapy in critically ill patients with LC-FAOD: Report of patients treated through an expanded access program. Mol Genet Metab. 2022 06; 136(2):152-162. PMID: 35459555.
    Citations:    Fields:    Translation:HumansCells
  3. Lau HA, Viskochil D, Tanpaiboon P, Lopez AG, Martins E, Taylor J, Malkus B, Zhang L, Jurecka A, Marsden D. Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII. Mol Genet Metab. 2022 05; 136(1):28-37. PMID: 35331634.
    Citations:    Fields:    Translation:HumansCTClinical Trials
  4. Marsden D, Bedrosian CL, Vockley J. Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders. Genet Med. 2021 05; 23(5):816-829. PMID: 33495527; PMCID: PMC8105167.
    Citations: 10     Fields:    Translation:HumansPHPublic Health
  5. Wang RY, da Silva Franco JF, López-Valdez J, Martins E, Sutton VR, Whitley CB, Zhang L, Cimms T, Marsden D, Jurecka A, Harmatz P. Corrigendum to "The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII" [Mol Genet Metab 2020 Mar;129(3):219-227]. Mol Genet Metab. 2020 Sep - Oct; 131(1-2):285. PMID: 32843286.
    Citations:    Fields:    
  6. Jones SA, Marsden D, Koutsoukos T, Sniadecki J, Tylee K, Phillippo S, Kakkis E. Retrospective chart review of urinary glycosaminoglycan excretion and long-term clinical outcomes of enzyme replacement therapy in patients with mucopolysaccharidoses. Mol Genet Metab. 2020 08; 130(4):255-261. PMID: 32563631.
    Citations:    Fields:    Translation:Humans
  7. Berry GT, Blume ED, Wessel A, Singh T, Hecht L, Marsden D, Sahai I, Elisofon S, Ferguson M, Kim HB, Harris DJ, Demirbas D, Almuqbil M, Nyhan WL. The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantation. JIMD Rep. 2020 Jul; 54(1):3-8. PMID: 32685343; PMCID: PMC7358669.
    Citations: 1     
  8. Kakkis E, Marsden D. Urinary glycosaminoglycans as a potential biomarker for evaluating treatment efficacy in subjects with mucopolysaccharidoses. Mol Genet Metab. 2020 05; 130(1):7-15. PMID: 32224020.
    Citations: 3     Fields:    Translation:HumansAnimals
  9. Wang RY, da Silva Franco JF, López-Valdez J, Martins E, Sutton VR, Whitley CB, Zhang L, Cimms T, Marsden D, Jurecka A, Harmatz P. The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII. Mol Genet Metab. 2020 03; 129(3):219-227. PMID: 32063397.
    Citations: 4     Fields:    Translation:HumansCTClinical Trials
  10. Vockley J, Burton B, Berry GT, Longo N, Phillips J, Sanchez-Valle A, Tanpaiboon P, Grunewald S, Murphy E, Bowden A, Chen W, Chen CY, Cataldo J, Marsden D, Kakkis E. Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD). J Inherit Metab Dis. 2019 01; 42(1):169-177. PMID: 30740733.
    Citations: 20     Fields:    Translation:HumansCellsCTClinical Trials
  11. Vockley J, Burton B, Berry GT, Longo N, Phillips J, Sanchez-Valle A, Tanpaiboon P, Grunewald S, Murphy E, Bowden A, Chen W, Chen CY, Cataldo J, Marsden D, Kakkis E. Results from a 78-week, single-arm, open-label Phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD). J Inherit Metab Dis. 2018 Jul 09. PMID: 29987492.
    Citations:    Fields:    
  12. Obaid A, Nashabat M, Alfadhel M, Alasmari A, Al Mutairi F, Alswaid A, Faqeih E, Mushiba A, Albanyan M, Alalwan M, Marsden D, Eyaid W. Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency. JIMD Rep. 2018; 40:47-53. PMID: 28980192; PMCID: PMC6122013.
    Citations: 10     
  13. Peake RW, Marsden DL, Bodamer OA, Gelb MH, Millington DS, Wijburg F. Newborn Screening for Lysosomal Storage Disorders: Quo Vadis? Clin Chem. 2016 11; 62(11):1430-1438. PMID: 27630153; PMCID: PMC5545176.
    Citations: 9     Fields:    Translation:HumansPHPublic Health
  14. Vockley J, Marsden D, McCracken E, DeWard S, Barone A, Hsu K, Kakkis E. Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment--A retrospective chart review. Mol Genet Metab. 2015 Sep-Oct; 116(1-2):53-60. PMID: 26116311; PMCID: PMC4561603.
    Citations: 38     Fields:    Translation:HumansCells
  15. Marsden D, Levy H. Newborn screening of lysosomal storage disorders. Clin Chem. 2010 Jul; 56(7):1071-9. PMID: 20489136.
    Citations: 28     Fields:    Translation:HumansPHPublic Health
  16. Sahai I, Marsden D. Newborn screening. Crit Rev Clin Lab Sci. 2009; 46(2):55-82. PMID: 19255915.
    Citations: 10     Fields:    Translation:HumansPHPublic Health
  17. Marsden DL. Commentary on a Delphi clinical practice protocol for the diagnosis and management of very long chain acyl-CoA dehydrogenase deficiency by Arnold et al. Mol Genet Metab. 2009 Mar; 96(3):81-2. PMID: 19081279.
    Citations: 2     Fields:    Translation:Humans
  18. Hsu HW, Zytkovicz TH, Comeau AM, Strauss AW, Marsden D, Shih VE, Grady GF, Eaton RB. Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening. Pediatrics. 2008 May; 121(5):e1108-14. PMID: 18450854.
    Citations: 19     Fields:    Translation:HumansPHPublic Health
  19. Edward Neilan, Deborah Marsden. Manual of Pediatric Therapeutics. Metabolic Disorders. 2008; 406-416.
  20. Oglesbee D, He M, Majumder M, Vockley J, Ahmad A, Angle B, Burton B, CharrowJ, Ensenauer R, Ficiciogly CH, Keppen LD, Marsden D, Tortorelli S, Hahn SH, Matern D. Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. . Genet Med. 2007 Feb;9(2):108-16. 2007; 2:108-16.
  21. Oglesbee D, He M, Majumder N, Vockley J, Ahmad A, Angle B, Burton B, Charrow J, Ensenauer R, Ficicioglu CH, Keppen LD, Marsden D, Tortorelli S, Hahn SH, Matern D. Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Genet Med. 2007 Feb; 9(2):108-16. PMID: 17304052.
    Citations: 14     Fields:    Translation:Humans
  22. Marsha F. Browning, Deborah L. Marsden. Screening newborns for inherited metabolic disease. The Female Patient. 2006; 31(12).
  23. Deborah Marsden. Metabolic Bone Disease in PKU. National PKU News (Virginia Schuett). 2006; 18(2).
  24. Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, Case L, Crowley JF, Downs S, Howell RR, Kravitz RM, Mackey J, Marsden D, Martins AM, Millington DS, Nicolino M, O'Grady G, Patterson MC, Rapoport DM, Slonim A, Spencer CT, Tifft CJ, Watson MS. Pompe disease diagnosis and management guideline. Genet Med. 2006 May; 8(5):267-88. PMID: 16702877; PMCID: PMC3110959.
    Citations: 167     Fields:    Translation:Humans
  25. Marsden D, Larson C, Levy HL. Newborn screening for metabolic disorders. J Pediatr. 2006 May; 148(5):577-584. PMID: 16737864.
    Citations: 12     Fields:    Translation:HumansPHPublic Health
  26. Anselm IA, Anselm IM, Alkuraya FS, Salomons GS, Jakobs C, Fulton AB, Mazumdar M, Rivkin M, Frye R, Poussaint TY, Marsden D. X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype. J Inherit Metab Dis. 2006 Feb; 29(1):214-9. PMID: 16601897.
    Citations: 18     Fields:    Translation:HumansCells
  27. Deborah Marsden and Harvey Levy. Classification of PKU. Advances in Phenylketonuria and Tetrahydrobiopterin (Blau, editor). 2006; 93-103.
  28. Tsina EK, Marsden DL, Hansen RM, Fulton AB. Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria. Arch Ophthalmol. 2005 Aug; 123(8):1143-6. PMID: 16087854.
    Citations: 24     Fields:    Translation:HumansCells
  29. Marsden D. Infantile onset Pompe disease: a report of physician narratives from an epidemiologic study. Genet Med. 2005 Feb; 7(2):147-50. PMID: 15714084.
    Citations: 13     Fields:    Translation:Humans
  30. Marsden DL, Rohr FJ, Costas KC. Nutritional Management of Phenylketonuria. Encyclopedia of Human Nutrition, Cabellero B, Allen L, Prentice A. 2005; 3:22-27.
  31. Marsden DL. Inborn Errors of Metabolism: Classification and Biochemical Aspects. Encyclopedia of Human Nutrition, Cabellero B, Allen L, Prentice A. 2005; 3:13-21.
  32. Deborah Marsden. Disorders of Creatine Metabolism. Atlas of Metabolic Diseases, Nyhan WL, Barshop BA, Ozand PT. 2005; 741-44.
  33. Browning MF, Larson C, Strauss A, Marsden DL. Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects. J Inherit Metab Dis. 2005; 28(4):545-50. PMID: 15902557.
    Citations: 13     Fields:    Translation:HumansPHPublic Health
  34. Gennaccaro M, Waisbren SE, Marsden D. The knowledge gap in expanded newborn screening: survey results from paediatricians in Massachusetts. J Inherit Metab Dis. 2005; 28(6):819-24. PMID: 16435173.
    Citations: 13     Fields:    Translation:HumansPHPublic Health
  35. 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. PMID: 15347704.
    Citations: 15     Fields:    Translation:Humans
  36. Deborah Marsden, Gerald F Cox. New Advances in Genetics that Impact Clinical Practices for Pediatricians. 2004.
  37. Marsden D, Larson CA. Emerging role for tandem mass spectrometry in detecting congenital adrenal hyperplasia. Clin Chem. 2004 Mar; 50(3):467-8. PMID: 14981024.
    Citations:    Fields:    Translation:Humans
  38. 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. PMID: 14625333.
    Citations: 99     Fields:    Translation:HumansPHPublic Health
  39. Fearing MK, Marsden D. Expanded newborn screening. Pediatr Ann. 2003 Aug; 32(8):509-15. PMID: 12942893.
    Citations: 3     Fields:    Translation:HumansPHPublic Health
  40. 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. PMID: 12640389.
    Citations: 20     Fields:    Translation:Humans
  41. Salomons GS, van Dooren SJ, Verhoeven NM, Marsden D, Schwartz C, Cecil KM, DeGrauw TJ, Jakobs C. X-linked creatine transporter defect: an overview. J Inherit Metab Dis. 2003; 26(2-3):309-18. PMID: 12889669.
    Citations: 44     Fields:    Translation:HumansCells
  42. Marsden D. Expanded newborn screening by tandem mass spectrometry: the Massachusetts and New England experience. Southeast Asian J Trop Med Public Health. 2003; 34 Suppl 3:111-4. PMID: 15906712.
    Citations: 4     Fields:    Translation:HumansPHPublic Health
  43. Zytkovicz TH, Fitzgerald EF, Marsden D, Larson CA, Shih VE, Johnson DM, Strauss AW, Comeau AM, Eaton RB, Grady GF. Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program. Clin Chem. 2001 Nov; 47(11):1945-55. PMID: 11673361.
    Citations: 126     Fields:    Translation:HumansPHPublic Health
  44. Marsden D, Nyhan WL, Barshop BA. Creatine kinase and uric acid: early warning for metabolic imbalance resulting from disorders of fatty acid oxidation. Eur J Pediatr. 2001 Oct; 160(10):599-602. PMID: 11686503.
    Citations: 4     Fields:    Translation:HumansCells
  45. Albers S, Levy HL, Irons M, Strauss AW, Marsden D. Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2001 Jun; 24(3):417-8. PMID: 11486912.
    Citations: 1     Fields:    Translation:HumansPHPublic Health
  46. Albers S, Marsden D, Quackenbush E, Stark AR, Levy HL, Irons M. Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry. Pediatrics. 2001 Jun; 107(6):E103. PMID: 11389301.
    Citations: 11     Fields:    Translation:HumansCellsPHPublic Health
  47. Lee C, Murray MF, Miron PM, Marsden D, Irons M, Wilkins-Haug LE, Morton CC. Clinical picture: Multicolour karyotyping. Lancet. 2001 Apr 21; 357(9264):1240. PMID: 11458963.
    Citations: 1     Fields:    Translation:HumansCells
  48. 2. Grady GF, Zytkovicz T, Marsden D, Larson C, Shih V. Notification experience with newborn disorders detected by tandem mass spectrometry in the early experience of the New England program. MMWR Recommendations and Reports. Report of a Work Group. 2001; 29-30.
  49. Albers S, Waisbren SE, Ampola MG, Brewster TG, Burke LW, Demmer LA, Filiano J, Greenstein RM, Ingham CL, Korson MS, Marsden D, Schwartz RC, Seashore MR, Shih VE, Levy HL. New England Consortium: a model for medical evaluation of expanded newborn screening with tandem mass spectrometry. J Inherit Metab Dis. 2001 Apr; 24(2):303-4. PMID: 11405349.
    Citations: 3     Fields:    Translation:HumansPHPublic Health
  50. Deborah L Marsden. Metabolic Testing in Newborns. 2000.
  51. Smith ML, Hua XY, Marsden DL, Liu D, Kennaway NG, Ngo KY, Haas RH. Diabetes and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS): radiolabeled polymerase chain reaction is necessary for accurate detection of low percentages of mutation. J Clin Endocrinol Metab. 1997 Sep; 82(9):2826-31. PMID: 9284704.
    Citations: 6     Fields:    Translation:HumansCells
  52. Haas RH, Marsden DL. Disorders of Organic Acids. Berg BO, editor. Principles of Child Neurology. 1996; 1041-90.
  53. Haas RH, Marsden DL, Capistrano-Estrada S, Hamilton R, Grafe MR, Wong W, Nyhan WL. Acute basal ganglia infarction in propionic acidemia. J Child Neurol. 1995 Jan; 10(1):18-22. PMID: 7769171.
    Citations: 16     Fields:    Translation:Humans
  54. Marsden D, Nyhan WL, Sakati NO. Syndrome of hypoparathyroidism, growth hormone deficiency, and multiple minor anomalies. Am J Med Genet. 1994 Sep 01; 52(3):334-8. PMID: 7810565.
    Citations: 5     Fields:    Translation:Humans
  55. Marsden D, Barshop BA, Capistrano-Estrada S, Rice M, Prodanos C, Sartoris D, Wolff J, Jones KL, Spector S, Nyhan WL. Anabolic effect of human growth hormone: management of inherited disorders of catabolic pathways. Biochem Med Metab Biol. 1994 Aug; 52(2):145-54. PMID: 7993663.
    Citations: 9     Fields:    Translation:Humans
  56. Capistrano-Estrada S, Marsden DL, Nyhan WL, Newbury RO, Krous HF, Tuchman M. Histopathological findings in a male with late-onset ornithine transcarbamylase deficiency. Pediatr Pathol. 1994 Mar-Apr; 14(2):235-43. PMID: 8008687.
    Citations: 4     Fields:    Translation:HumansCells
  57. Marsden D, Sege-Petersen K, Nyhan WL, Roschinger W, Sweetman L. An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency. Am J Dis Child. 1992 Dec; 146(12):1459-62. PMID: 1456259.
    Citations: 3     Fields:    Translation:Humans
  58. Marsden DL, Nyhan WL. Neurological diseases in disorders of organic acids. Curr Opin Neurol Neurosurg. 1992 Jun; 5(3):349-54. PMID: 1623263.
    Citations: 2     Fields:    Translation:Humans
  59. Wulfeck B, Trauner D, Marsden D, Nyhan WL, Tallal P. Neurobehavioral profile in two sisters with Schwachmann- Diamond syndrome. Dysmorph and Clin Genet. 1991; 5(1):15-22.
  60. Nyhan WL, Marsden DL. Inborn errors of metabolism. In: Current Opinion in Pediatrics. 1990; 2:749-52.
  61. Nyhan WL, Wulfeck BB, Tallal P, Marsden DL. Metabolic correlates of learning disability. Birth Defects Orig Artic Ser. 1989; 25(6):153-69. PMID: 2605319.
    Citations: 5     Fields:    Translation:Humans
  62. Burn J, Hall C, Marsden D, Matthew DJ. Autosomal dominant thoracolaryngopelvic dysplasia: Barnes syndrome. J Med Genet. 1986 Aug; 23(4):345-9. PMID: 3746836; PMCID: PMC1049703.
    Citations: 4     Fields:    Translation:Humans
  63. Cheriyan G, Helms P, Paky F, Marsden D, Chiu MC. Transcutaneous estimation of arterial carbon dioxide in intensive care. Which electrode temperature? Arch Dis Child. 1986 Jul; 61(7):652-6. PMID: 3090946; PMCID: PMC1777902.
    Citations: 3     Fields:    Translation:Humans
  64. Marsden D, Chiu MC, Paky F, Helms P. Transcutaneous oxygen and carbon dioxide monitoring in intensive care. Arch Dis Child. 1985 Dec; 60(12):1158-61. PMID: 3937497; PMCID: PMC1777664.
    Citations: 7     Fields:    Translation:Humans
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.