PUBLICATIONS

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  1. 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. 2017 Oct 05. View abstract
  2. Peake RW, Marsden DL, Bodamer OA, Gelb MH, Millington DS, Wijburg F. Newborn Screening for Lysosomal Storage Disorders: Quo Vadis? Clin Chem. 2016 Nov; 62(11):1430-1438. View abstract
  3. 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. View abstract
  4. Marsden D, Levy H. Newborn screening of lysosomal storage disorders. Clin Chem. 2010 Jul; 56(7):1071-9. View abstract
  5. Sahai I, Marsden D. Newborn screening. Crit Rev Clin Lab Sci. 2009; 46(2):55-82. View abstract
  6. 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. View abstract
  7. 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. View abstract
  8. Edward Neilan, Deborah Marsden. Manual of Pediatric Therapeutics. Metabolic Disorders. 2008; 406-416. View abstract
  9. 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. View abstract
  10. 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. View abstract
  11. Marsha F. Browning, Deborah L. Marsden. Screening newborns for inherited metabolic disease. The Female Patient. 2006; 31(12). View abstract
  12. Deborah Marsden. Metabolic Bone Disease in PKU. National PKU News (Virginia Schuett). 2006; 18(2). View abstract
  13. 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. View abstract
  14. Marsden D, Larson C, Levy HL. Newborn screening for metabolic disorders. J Pediatr. 2006 May; 148(5):577-584. View abstract
  15. 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. View abstract
  16. Deborah Marsden and Harvey Levy. Classification of PKU. Advances in Phenylketonuria and Tetrahydrobiopterin (Blau, editor). 2006; 93-103. View abstract
  17. 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. View abstract
  18. Marsden D. Infantile onset Pompe disease: a report of physician narratives from an epidemiologic study. Genet Med. 2005 Feb; 7(2):147-50. View abstract
  19. 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. View abstract
  20. 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. View abstract
  21. Marsden DL. Inborn Errors of Metabolism: Classification and Biochemical Aspects. Encyclopedia of Human Nutrition, Cabellero B, Allen L, Prentice A. 2005; 3:13-21. View abstract
  22. Marsden DL, Rohr FJ, Costas KC. Nutritional Management of Phenylketonuria. Encyclopedia of Human Nutrition, Cabellero B, Allen L, Prentice A. 2005; 3:22-27. View abstract
  23. Deborah Marsden. Disorders of Creatine Metabolism. Atlas of Metabolic Diseases, Nyhan WL, Barshop BA, Ozand PT. 2005; 741-44. View abstract
  24. 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. View abstract
  25. Deborah Marsden, Gerald F Cox. New Advances in Genetics that Impact Clinical Practices for Pediatricians. 2004. View abstract
  26. Marsden D, Larson CA. Emerging role for tandem mass spectrometry in detecting congenital adrenal hyperplasia. Clin Chem. 2004 Mar; 50(3):467-8. View abstract
  27. 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. View abstract
  28. Fearing MK, Marsden D. Expanded newborn screening. Pediatr Ann. 2003 Aug; 32(8):509-15. View abstract
  29. 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. View abstract
  30. 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. View abstract
  31. 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. View abstract
  32. 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. View abstract
  33. 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. View abstract
  34. 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. View abstract
  35. 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. View abstract
  36. 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. View abstract
  37. 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. View abstract
  38. 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. View abstract
  39. Deborah L Marsden. Metabolic Testing in Newborns. 2000. View abstract
  40. 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. View abstract
  41. Haas RH, Marsden DL. Disorders of Organic Acids. Berg BO, editor. Principles of Child Neurology. 1996; 1041-90. View abstract
  42. 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. View abstract
  43. 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. View abstract
  44. 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. View abstract
  45. 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. View abstract
  46. 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. View abstract
  47. Marsden DL, Nyhan WL. Neurological diseases in disorders of organic acids. Curr Opin Neurol Neurosurg. 1992 Jun; 5(3):349-54. View abstract
  48. 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. View abstract
  49. Nyhan WL, Marsden DL. Inborn errors of metabolism. In: Current Opinion in Pediatrics. 1990; 2:749-52. View abstract
  50. Nyhan WL, Wulfeck BB, Tallal P, Marsden DL. Metabolic correlates of learning disability. Birth Defects Orig Artic Ser. 1989; 25(6):153-69. View abstract
  51. Burn J, Hall C, Marsden D, Matthew DJ. Autosomal dominant thoracolaryngopelvic dysplasia: Barnes syndrome. J Med Genet. 1986 Aug; 23(4):345-9. View abstract
  52. 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. View abstract
  53. 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. View abstract