Current Environment: Production

Medical Services

Programs & Services

Languages

  • English

Certifications

  • American Board of Medical Genetics and Genomics (Clinical Biochemical Genetics)

Publications

  1. Clinical manifestations, healthcare resource utilization, and costs among patients with long-chain fatty acid oxidation disorders: a retrospective claims database analysis. Curr Med Res Opin. 2024 Nov; 40(11):1893-1906. View Abstract

  2. Major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States: Results from LC-FAOD Odyssey program. Mol Genet Metab. 2024 May; 142(1):108350. View Abstract

  3. Mucopolysaccharidosis type VII (Sly syndrome) - What do we know? Mol Genet Metab. 2024 Mar; 141(3):108145. View Abstract

  4. Estimating the Prevalence of Rare Diseases: Long-Chain Fatty Acid Oxidation Disorders as an Illustrative Example. Adv Ther. 2022 07; 39(7):3361-3377. View Abstract

  5. 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. View Abstract

  6. 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. View Abstract

  7. 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. View Abstract

  8. 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. View Abstract

  9. 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. View Abstract

  10. The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantation. JIMD Rep. 2020 Jul; 54(1):3-8. View Abstract

  11. Urinary glycosaminoglycans as a potential biomarker for evaluating treatment efficacy in subjects with mucopolysaccharidoses. Mol Genet Metab. 2020 05; 130(1):7-15. View Abstract

  12. 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. View Abstract

  13. 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. View Abstract

  14. 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. View Abstract

  15. Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency. JIMD Rep. 2018; 40:47-53. View Abstract

  16. Newborn Screening for Lysosomal Storage Disorders: Quo Vadis? Clin Chem. 2016 11; 62(11):1430-1438. View Abstract

  17. 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

  18. Newborn screening of lysosomal storage disorders. Clin Chem. 2010 Jul; 56(7):1071-9. View Abstract

  19. Newborn screening. Crit Rev Clin Lab Sci. 2009; 46(2):55-82. View Abstract

  20. 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

  21. Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening. Pediatrics. 2008 May; 121(5):e1108-14. View Abstract

  22. Manual of Pediatric Therapeutics. Metabolic Disorders. 2008; 406-416.

  23. 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.

  24. 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

  25. Screening newborns for inherited metabolic disease. The Female Patient. 2006; 31(12).

  26. Metabolic Bone Disease in PKU. National PKU News (Virginia Schuett). 2006; 18(2).

  27. Pompe disease diagnosis and management guideline. Genet Med. 2006 May; 8(5):267-88. View Abstract

  28. Newborn screening for metabolic disorders. J Pediatr. 2006 May; 148(5):577-584. View Abstract

  29. 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

  30. Classification of PKU. Advances in Phenylketonuria and Tetrahydrobiopterin (Blau, editor). 2006; 93-103.

  31. Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria. Arch Ophthalmol. 2005 Aug; 123(8):1143-6. View Abstract

  32. Infantile onset Pompe disease: a report of physician narratives from an epidemiologic study. Genet Med. 2005 Feb; 7(2):147-50. View Abstract

  33. 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

  34. The knowledge gap in expanded newborn screening: survey results from paediatricians in Massachusetts. J Inherit Metab Dis. 2005; 28(6):819-24. View Abstract

  35. Nutritional Management of Phenylketonuria. Encyclopedia of Human Nutrition, Cabellero B, Allen L, Prentice A. 2005; 3:22-27.

  36. Inborn Errors of Metabolism: Classification and Biochemical Aspects. Encyclopedia of Human Nutrition, Cabellero B, Allen L, Prentice A. 2005; 3:13-21.

  37. Disorders of Creatine Metabolism. Atlas of Metabolic Diseases, Nyhan WL, Barshop BA, Ozand PT. 2005; 741-44.

  38. 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

  39. New Advances in Genetics that Impact Clinical Practices for Pediatricians. 2004.

  40. Emerging role for tandem mass spectrometry in detecting congenital adrenal hyperplasia. Clin Chem. 2004 Mar; 50(3):467-8. View Abstract

  41. 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

  42. Expanded newborn screening. Pediatr Ann. 2003 Aug; 32(8):509-15. View Abstract

  43. Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema. J Pediatr. 2003 Mar; 142(3):349-52. View Abstract

  44. X-linked creatine transporter defect: an overview. J Inherit Metab Dis. 2003; 26(2-3):309-18. View Abstract

  45. 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

  46. 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

  47. 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

  48. Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry. Pediatrics. 2001 Jun; 107(6):E103. View Abstract

  49. 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

  50. Clinical picture: Multicolour karyotyping. Lancet. 2001 Apr 21; 357(9264):1240. View Abstract

  51. 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.

  52. 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

  53. Metabolic Testing in Newborns. 2000.

  54. 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

  55. Disorders of Organic Acids. Berg BO, editor. Principles of Child Neurology. 1996; 1041-90.

  56. Acute basal ganglia infarction in propionic acidemia. J Child Neurol. 1995 Jan; 10(1):18-22. View Abstract

  57. Syndrome of hypoparathyroidism, growth hormone deficiency, and multiple minor anomalies. Am J Med Genet. 1994 Sep 01; 52(3):334-8. View Abstract

  58. 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

  59. Histopathological findings in a male with late-onset ornithine transcarbamylase deficiency. Pediatr Pathol. 1994 Mar-Apr; 14(2):235-43. View Abstract

  60. An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency. Am J Dis Child. 1992 Dec; 146(12):1459-62. View Abstract

  61. Neurological diseases in disorders of organic acids. Curr Opin Neurol Neurosurg. 1992 Jun; 5(3):349-54. View Abstract

  62. Neurobehavioral profile in two sisters with Schwachmann- Diamond syndrome. Dysmorph and Clin Genet. 1991; 5(1):15-22.

  63. Inborn errors of metabolism. In: Current Opinion in Pediatrics. 1990; 2:749-52.

  64. Metabolic correlates of learning disability. Birth Defects Orig Artic Ser. 1989; 25(6):153-69. View Abstract

  65. Autosomal dominant thoracolaryngopelvic dysplasia: Barnes syndrome. J Med Genet. 1986 Aug; 23(4):345-9. View Abstract

  66. Transcutaneous estimation of arterial carbon dioxide in intensive care. Which electrode temperature? Arch Dis Child. 1986 Jul; 61(7):652-6. View Abstract

  67. Transcutaneous oxygen and carbon dioxide monitoring in intensive care. Arch Dis Child. 1985 Dec; 60(12):1158-61. View Abstract
BESbswy