Medical School

  • Medical School Heidelberg , 1989 , Heidelberg , Germany


  • Great Ormond Street Hospital for Children , 1997 , London , UK


  • Baylor College of Medicine , 2001 , Houston , TX


Dr. Bodamer obtained his M.D. degree from the University of Heidelberg, Germany, and his Ph.D. degree from the University of Saarland, Germany. Following pediatric residencies in Germany and at the Great Ormond Street Hospital in London, UK, he completed a fellowship in Clinical and Biochemical Genetics at Baylor College of Medicine, Houston, Texas. Subsequent to directing the Austrian Newborn Screening Program, he then joined the University of Miami as the founding Chief of the Division of Clinical and Translational Genetics and the Director of the Medical Genetics Laboratories. Dr. Bodamer was recruited to Boston Children’s Hospital in 2015 as Associate Chief for Genetics and Genomics, where he established a research laboratory. He is member of several Editorial and Scientific Advisory Boards, including Molecular Genetics and Metabolism, Journal of Inherited Diseases, Translational Medicine and Translational Journal of Rare Disease and of Patient Organizations (All Things Kabuki and OAA) respectively. Dr. Bodamer is the Director of the Boston Children’s Lysosomal Storage Disease (BoLD) Program and Boston Children’s Roya Kabuki Program.


Dr. Bodamer serves as an expert for the Department of Genetics & Genomics for Boston Children's Hospital Precision Medicine Service. For more information about the Precision Medicine Service please visit


  • American Board of Medical Genetics and Genomics, Clinical Biochemical Genetics
  • American Board of Medical Genetics and Genomics, Clinical Genetics


Publications powered by Harvard Catalyst Profiles

  1. Lysine methyltransferase 2D regulates muscle fiber size and muscle cell differentiation. FASEB J. 2021 Nov; 35(11):e21955. View abstract
  2. Neuroimaging in Kabuki syndrome and another KMT2D-related disorder. Am J Med Genet A. 2021 Aug 09. View abstract
  3. Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates. Cell Rep. 2021 Jun 08; 35(10):109226. View abstract
  4. Caring for Caregivers: Implications for Providing Authentic Family-Centered Care. Pediatrics. 2021 05; 147(5). View abstract
  5. The otolaryngologic manifestations of Sotos syndrome 1: A systematic review. Int J Pediatr Otorhinolaryngol. 2021 Apr; 143:110649. View abstract
  6. Autosomal-dominant WFS1-related disorder-Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms. Am J Med Genet A. 2021 02; 185(2):528-533. View abstract
  7. Congenital microgastria-limb reduction association: A case report and review of the literature. Am J Med Genet A. 2020 12; 182(12):2976-2981. View abstract
  8. Author Correction: Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study. Sci Rep. 2020 Jul 07; 10(1):11160. View abstract
  9. Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study. Sci Rep. 2020 06 10; 10(1):9382. View abstract
  10. Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT). Genet Med. 2020 10; 22(10):1673-1681. View abstract
  11. Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome. Mol Psychiatry. 2021 06; 26(6):2013-2024. View abstract
  12. The tale of two genes: from next-generation sequencing to phenotype. Cold Spring Harb Mol Case Stud. 2020 04; 6(2). View abstract
  13. An emerging role for endothelial barrier support therapy for congenital disorders of glycosylation. J Inherit Metab Dis. 2020 07; 43(4):880-890. View abstract
  14. De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature. Eur J Hum Genet. 2020 06; 28(6):770-782. View abstract
  15. Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease. Mol Genet Metab. 2020 04; 129(4):292-302. View abstract
  16. The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series. Am J Med Genet A. 2020 04; 182(4):640-651. View abstract
  17. ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2020 Jan 02; 106(1):137. View abstract
  18. Holoprosencephaly in Kabuki syndrome. Am J Med Genet A. 2020 03; 182(3):441-445. View abstract
  19. Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life. Mol Genet Genomic Med. 2020 02; 8(2):e1072. View abstract
  20. Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield. Genet Med. 2020 04; 22(4):736-744. View abstract
  21. Prenatal and perinatal history in Kabuki Syndrome. Am J Med Genet A. 2020 01; 182(1):85-92. View abstract
  22. Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients. Mol Genet Metab Rep. 2019 Dec; 21:100530. View abstract
  23. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. N Engl J Med. 2019 10 24; 381(17):1644-1652. View abstract
  24. De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes. Hum Mol Genet. 2019 09 01; 28(17):2937-2951. View abstract
  25. A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome. . 2019 09; 179(9):1866-1871. View abstract
  26. Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Eur J Hum Genet. 2019 09; 27(9):1398-1405. View abstract
  27. Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. Epilepsia. 2019 03; 60(3):406-418. View abstract
  28. ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2019 02 07; 104(2):319-330. View abstract
  29. Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals". Genet Med. 2019 01; 21(1):262-265. View abstract
  30. Kabuki syndrome: international consensus diagnostic criteria. J Med Genet. 2019 02; 56(2):89-95. View abstract
  31. Injury type-dependent differentiation of NG2 glia into heterogeneous astrocytes. Exp Neurol. 2018 10; 308:72-79. View abstract
  32. Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals. Genet Med. 2019 01; 21(1):233-242. View abstract
  33. Expanding the clinical spectrum of biallelic ZNF335 variants. Clin Genet. 2018 08; 94(2):246-251. View abstract
  34. A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure. PLoS One. 2017; 12(12):e0189324. View abstract
  35. The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases. Mov Disord Clin Pract. 2018 Mar-Apr; 5(2):149-155. View abstract
  36. Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure. Cold Spring Harb Mol Case Stud. 2017 Nov; 3(6). View abstract
  37. Biochemical and behavioral phenotype of AGAT and GAMT deficient mice following long-term Creatine monohydrate supplementation. Metab Brain Dis. 2017 Dec; 32(6):1951-1961. View abstract
  38. Newborn Screening for Pompe Disease. Pediatrics. 2017 Jul; 140(Suppl 1):S4-S13. View abstract
  39. Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS). Mol Genet Metab Rep. 2017 Jun; 11:62-64. View abstract
  40. Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity. Orphanet J Rare Dis. 2017 04 24; 12(1):77. View abstract
  41. Dark Colored Urine in a 2-Year-Old Child. Clin Chem. 2017 03; 63(3):786-788. View abstract
  42. Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics. Genet Med. 2017 02; 19(2):256-263. View abstract
  43. Newborn Screening for Lysosomal Storage Disorders. J Pediatr Genet. 2017 Mar; 6(1):51-60. View abstract
  44. Newborn Screening for Lysosomal Storage Disorders: Quo Vadis? Clin Chem. 2016 11; 62(11):1430-1438. View abstract
  45. Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. Nat Commun. 2016 05 27; 7:11601. View abstract
  46. Treatment with a Small Molecule Mutant IDH1 Inhibitor Suppresses Tumorigenic Activity and Decreases Production of the Oncometabolite 2-Hydroxyglutarate in Human Chondrosarcoma Cells. PLoS One. 2015; 10(9):e0133813. View abstract
  47. Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype. Clin Genet. 2016 Mar; 89(3):359-66. View abstract
  48. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. J Med Genet. 2015 Jun; 52(6):413-21. View abstract
  49. Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I. Curr Protoc Hum Genet. 2015 Jan 20; 84:17.17.1-17.17.8. View abstract
  50. Liver, pancreas and kidney transplantation for the treatment of Wolcott-Rallison syndrome. Am J Transplant. 2015 Feb; 15(2):565-7. View abstract
  51. Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening. Best Pract Res Clin Endocrinol Metab. 2015 Mar; 29(2):145-57. View abstract
  52. Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry. Clin Chim Acta. 2015 Jan 01; 438:195-204. View abstract
  53. The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape. Mol Genet Metab. 2014 Sep-Oct; 113(1-2):34-41. View abstract
  54. Diagnosis of lysosomal storage disorders: Gaucher disease. Curr Protoc Hum Genet. 2014 Jul 14; 82:17.15.1-6. View abstract
  55. Screening for late-onset Pompe disease in Finland. Neuromuscul Disord. 2014 Nov; 24(11):982-5. View abstract
  56. Bridging the gaps between the histopathological and demographic risk factors of preterm birth in a unique Miami inner-city population. Fetal Pediatr Pathol. 2014 Aug; 33(4):226-33. View abstract
  57. Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes. Orphanet J Rare Dis. 2014 Mar 31; 9:45. View abstract
  58. Phenylketonuria Scientific Review Conference: state of the science and future research needs. Mol Genet Metab. 2014 Jun; 112(2):87-122. View abstract
  59. Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model. Eur J Hum Genet. 2014 Oct; 22(10):1172-9. View abstract
  60. Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. . 2014 Mar; 164A(3):627-33. View abstract
  61. Update on transcobalamin deficiency: clinical presentation, treatment and outcome. J Inherit Metab Dis. 2014 May; 37(3):461-73. View abstract
  62. Diagnosing lysosomal storage disorders: mucopolysaccharidosis type II. Curr Protoc Hum Genet. 2013 Oct 18; 79:Unit 17.14.. View abstract
  63. Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray. Mol Cytogenet. 2013 Sep 20; 6(1):38. View abstract
  64. Analysis of lyso-globotriaosylsphingosine in dried blood spots. Ann Lab Med. 2013 Jul; 33(4):274-8. View abstract
  65. Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. Orphanet J Rare Dis. 2013 Jan 10; 8:6. View abstract
  66. Diagnosing lysosomal storage disorders: Fabry disease. Curr Protoc Hum Genet. 2013; Chapter 17:Unit17.13. View abstract
  67. Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation. J Inherit Metab Dis. 2013 Sep; 36(5):881-5. View abstract
  68. Diagnosing lysosomal storage disorders: Pompe disease. Curr Protoc Hum Genet. 2012 Oct; Chapter 17:Unit17.11. View abstract
  69. Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations. Pediatrics. 2012 Oct; 130(4):e1034-9. View abstract
  70. Analysis of acid sphingomyelinase activity in dried blood spots using tandem mass spectrometry. Ann Lab Med. 2012 Sep; 32(5):319-23. View abstract
  71. Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure. Orphanet J Rare Dis. 2012 Apr 23; 7:22. View abstract
  72. Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: application to a small-scale population study for five lysosomal storage disorders. Clin Chim Acta. 2012 Aug 16; 413(15-16):1270-3. View abstract
  73. Concurrent FOXP3- and CTLA4-associated genetic predisposition and skewed X chromosome inactivation in an autoimmune disease-prone family. Eur J Endocrinol. 2012 Jul; 167(1):131-4. View abstract
  74. Newborn screening for lysosomal storage disorders in hungary. JIMD Rep. 2012; 6:117-25. View abstract
  75. Enhanced interpretation of newborn screening results without analyte cutoff values. Genet Med. 2012 Jul; 14(7):648-55. View abstract
  76. Expert recommendations for the laboratory diagnosis of MPS VI. Mol Genet Metab. 2012 May; 106(1):73-82. View abstract
  77. Free asymmetric dimethylarginine (ADMA) is low in children and adolescents with classical phenylketonuria (PKU). J Inherit Metab Dis. 2012 Sep; 35(5):817-21. View abstract
  78. Propionic acidemia: neonatal versus selective metabolic screening. J Inherit Metab Dis. 2012 Jan; 35(1):41-9. View abstract
  79. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis. 2011 Nov 07; 6:72. View abstract
  80. The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus. Eur J Pediatr. 2012 Jan; 171(1):181-8. View abstract
  81. Mutation analysis in 54 propionic acidemia patients. J Inherit Metab Dis. 2012 Jan; 35(1):51-63. View abstract
  82. B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement. J Pediatr. 2011 Dec; 159(6):1041-3.e2. View abstract
  83. Effects of creatine supplementation in Rett syndrome: a randomized, placebo-controlled trial. J Dev Behav Pediatr. 2011 Jul-Aug; 32(6):454-60. View abstract
  84. Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. Mol Genet Metab. 2011 Aug; 103(4):358-61. View abstract
  85. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May; 13(5):457-84. View abstract
  86. Molecular analysis of guanidinoacetate-n-methyltransferase (GAMT) and creatine transporter (SLC6A8) gene by using denaturing high pressure liquid chromatography (DHPLC) as a possible source of human male infertility. Pak J Pharm Sci. 2011 Jan; 24(1):75-9. View abstract
  87. Early access experience with VPRIV(®): recommendations for 'core data' collection. Blood Cells Mol Dis. 2011 Aug 15; 47(2):140-2. View abstract
  88. Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey. Genet Med. 2010 Dec; 12(12):816-22. View abstract
  89. Low levels of asymmetric dimethylarginine in children with diabetes mellitus type I compared with healthy children. J Pediatr. 2011 Apr; 158(4):602-606.e1. View abstract
  90. Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry. Clin Chim Acta. 2011 Jan 30; 412(3-4):343-6. View abstract
  91. Laboratory and genetic evaluation of Gaucher disease. Wien Med Wochenschr. 2010 Dec; 160(23-24):600-4. View abstract
  92. Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation. Arch Dis Child. 2010 Apr; 95(4):296-301. View abstract
  93. Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry. Clin Chim Acta. 2010 Oct 09; 411(19-20):1428-31. View abstract
  94. Semi-quantitative method for determination of hematocrit in dried blood spots, using data collected in HPLC hemoglobin variant testing. Clin Chim Acta. 2010 Jun 03; 411(11-12):894-5. View abstract
  95. Magnetic resonance spectroscopy in patients with Fabry and Gaucher disease. Eur J Radiol. 2011 Aug; 79(2):295-8. View abstract
  96. Guidelines for the restart of imiglucerase in patients with Gaucher disease: recommendations from the European Working Group on Gaucher disease. Blood Cells Mol Dis. 2010 Mar-Apr; 44(2):86-7. View abstract
  97. A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia. Laryngoscope. 2010 Feb; 120(2):359-64. View abstract
  98. The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC). Mol Genet Metab. 2010 May; 100(1):42-5. View abstract
  99. Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I. Clin Chim Acta. 2010 Mar; 411(5-6):345-50. View abstract
  100. Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters. J Inherit Metab Dis. 2009 Oct; 32(5):630. View abstract
  101. Danon disease: case report and detection of new mutation. J Inherit Metab Dis. 2009 Dec; 32 Suppl 1:S115-22. View abstract
  102. Transcobalamin II deficiency at birth. Mol Genet Metab. 2009 Nov; 98(3):285-8. View abstract
  103. Introduction of a novel prototype bioartificial liver support system utilizing small human hepatocytes in rotary culture. Tissue Eng Part A. 2009 May; 15(5):1063-73. View abstract
  104. Low creatinine: the diagnostic clue for a treatable neurologic disorder. Neurology. 2009 Mar 03; 72(9):854-5. View abstract
  105. Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry. Mol Genet Metab. 2009 Apr; 96(4):273-5. View abstract
  106. Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders. Clin Chem. 2009 Jan; 55(1):158-64. View abstract
  107. Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry. Clin Chem. 2008 Oct; 54(10):1624-9. View abstract
  108. Heparin cofactor II-thrombin complex: a biomarker of MPS disease. Mol Genet Metab. 2008 Aug; 94(4):456-61. View abstract
  109. Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres. J Inherit Metab Dis. 2008 Jun; 31(3):361-7. View abstract
  110. Congenital disorders of glycosylation--a challenging group of IEMs. J Inherit Metab Dis. 2008 Apr; 31(2):267-9. View abstract
  111. Total homocysteine, B-vitamins and genetic polymorphisms in patients with classical phenylketonuria. Mol Genet Metab. 2008 May; 94(1):46-51. View abstract
  112. Comparison of tetrahydrofuran and ethyl acetate as extraction solvents for urinary organic acid analysis. J Inherit Metab Dis. 2008 Feb; 31(1):73-80. View abstract
  113. Newborn screening in Fabry disease: what can be achieved with early diagnosis? Clin Ther. 2008; 30 Suppl B:S41. View abstract
  114. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Mol Genet Metab. 2008 Mar; 93(3):275-81. View abstract
  115. Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr. 2008 Mar; 167(3):267-77. View abstract
  116. Metabolic changes in the normal ageing brain: consistent findings from short and long echo time proton spectroscopy. Eur J Radiol. 2008 Nov; 68(2):320-7. View abstract
  117. Trisomy 1q42.3-qter and monosomy 21q22.3-qter associated with ear anomaly, facial dysmorphology, psychomotor retardation, and epilepsy: delineation of a new syndrome. . 2007 Sep 01; 143A(17):2065-9. View abstract
  118. Expanded newborn screening in Europe 2007. J Inherit Metab Dis. 2007 Aug; 30(4):439-44. View abstract
  119. Screening for leukemia- and clone-specific markers at birth in children with T-cell precursor ALL suggests a predominantly postnatal origin. Blood. 2007 Oct 15; 110(8):3036-8. View abstract
  120. Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III. Mol Genet Metab. 2007 Aug; 91(4):379-83. View abstract
  121. Severe speech delay as the presenting symptom of guanidinoacetate methyltransferase deficiency. J Child Neurol. 2007 Jun; 22(6):773-4. View abstract
  122. Methylation status in females with rett syndrome. J Child Neurol. 2007 May; 22(5):635-8. View abstract
  123. Long-term stability of amino acids and acylcarnitines in dried blood spots. Clin Chem. 2007 Apr; 53(4):717-22. View abstract
  124. Prevalence of congenital adrenal hyperplasia among sudden infant death in the Czech Republic and Austria. Eur J Pediatr. 2007 Jan; 166(1):1-4. View abstract
  125. Evidence for an association between mannose-binding lectin 2 (MBL2) gene polymorphisms and pre-term birth. Genet Med. 2006 Aug; 8(8):518-24. View abstract
  126. Influence of hematocrit and localisation of punch in dried blood spots on levels of amino acids and acylcarnitines measured by tandem mass spectrometry. Clin Chim Acta. 2006 Nov; 373(1-2):27-31. View abstract
  127. Glucose and leucine kinetics in idiopathic ketotic hypoglycaemia. Arch Dis Child. 2006 Jun; 91(6):483-6. View abstract
  128. Prenatal and postnatal treatment in cobalamin C defect. J Pediatr. 2005 Oct; 147(4):469-72. View abstract
  129. Use of denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency. Mol Genet Metab. 2005 Sep-Oct; 86(1-2):328-34. View abstract
  130. Central nervous system malformations in oral-facial-digital syndrome, type 1. . 2005 Jul 15; 136(2):218. View abstract
  131. Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency. Neurology. 2005 Jun 28; 64(12):2142-4. View abstract
  132. Creatine metabolism in combined methylmalonic aciduria and homocystinuria. Ann Neurol. 2005 Apr; 57(4):557-60. View abstract
  133. Mucopolysaccharidosis type II in females: case report and review of literature. Pediatr Neurol. 2005 Apr; 32(4):270-2. View abstract
  134. Microarray-based detection of mannose-binding lectin 2 (MBL2) polymorphisms in a routine clinical setting. Genet Test. 2005; 9(1):6-13. View abstract
  135. Rapid analysis of total plasma homocysteine by tandem mass spectrometry. Clin Chim Acta. 2005 Jan; 351(1-2):139-41. View abstract
  136. Lack of correlation between fatty acid oxidation disorders and haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome? Acta Paediatr. 2005 Jan; 94(1):48-52. View abstract
  137. Fabry disease defined. Eur J Clin Invest. 2004 Jun; 34(6):449; author reply 450. View abstract
  138. Recurrent acroparaesthesia during febrile infections. Lancet. 2004 May 22; 363(9422):1698. View abstract
  139. Characterization of seven novel mutations in seven patients with GAMT deficiency. Hum Mutat. 2004 May; 23(5):524. View abstract
  140. Hypoketotic hypofattyacidaemic hypoinsulinaemic hypoglycaemia in a child with hemihypertrophy? A new syndrome. Horm Res. 2004; 61(5):222-7. View abstract
  141. Nuclear magnetic resonance spectroscopy in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2004; 27(6):877-83. View abstract
  142. Reversibility of cirrhotic regenerative liver nodules upon NTBC treatment in a child with tyrosinaemia type I. Acta Paediatr. 2003 May; 92(5):625-8. View abstract
  143. Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism. J Inherit Metab Dis. 2003; 26(2-3):299-308. View abstract
  144. Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy. J Inherit Metab Dis. 2003; 26(8):761-73. View abstract
  145. Utilization of cornstarch in glycogen storage disease type Ia. Eur J Gastroenterol Hepatol. 2002 Nov; 14(11):1251-6. View abstract
  146. Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia. Clin Chem. 2002 Nov; 48(11):1913-8. View abstract
  147. L-alanine supplementation in late infantile glycogen storage disease type II. Pediatr Neurol. 2002 Aug; 27(2):145-6. View abstract
  148. Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S). Am J Med Genet. 2002 May 15; 109(4):328-31. View abstract
  149. Familial complex chromosomal rearrangement resulting in a recombinant chromosome. Am J Med Genet. 2002 May 15; 109(4):311-7. View abstract
  150. Denaturing gradient gel electrophoresis for the molecular characterization of six patients with guanidinoacetate methyltransferase deficiency. Clin Chem. 2002 May; 48(5):767-9. View abstract
  151. Practical management of combined methylmalonicaciduria and homocystinuria. J Child Neurol. 2002 May; 17(5):353-6. View abstract
  152. Multiple fractures in a 3-month-old infant with severe infantile osteopetrosis. J Paediatr Child Health. 2001 Oct; 37(5):520-2. View abstract
  153. Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry. Clin Chim Acta. 2001 Jun; 308(1-2):173-8. View abstract
  154. Uses of stable isotopes in clinical diagnosis and research in the paediatric population. Arch Dis Child. 2001 May; 84(5):444-8. View abstract
  155. Adult-onset combined methylmalonic aciduria and homocystinuria (cblC). Neurology. 2001 Apr 24; 56(8):1113. View abstract
  156. Atypical presentation of amniotic band sequence. Am J Med Genet. 2001 Apr 22; 100(2):100-2. View abstract
  157. Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria. J Child Neurol. 2001 Feb; 16(2):136-8. View abstract
  158. Subdural hematomas and glutaric aciduria type I. Pediatrics. 2001 Feb; 107(2):451. View abstract
  159. The effects of l-alanine supplementation in late-onset glycogen storage disease type II. Neurology. 2000 Sep 12; 55(5):710-2. View abstract
  160. Measurement of carbon dioxide production in very low birth weight babies. Arch Dis Child Fetal Neonatal Ed. 2000 Jul; 83(1):F50-5. View abstract
  161. Resting energy expenditure in disorders of propionate metabolism. J Pediatr. 2000 May; 136(5):659-63. View abstract
  162. Deletion (9) (p13.1 p21.1). Am J Med Genet. 2000 Mar 13; 91(2):113-5. View abstract
  163. Protein, glucose and energy metabolism in Gaucher disease type I. J Inherit Metab Dis. 2000 Feb; 23(1):86-7. View abstract
  164. Psychiatric symptoms of inherited metabolic disease. J Inherit Metab Dis. 2000 Feb; 23(1):2-6. View abstract
  165. Sublingual therapy for cobalamin deficiency. Lancet. 1999 Oct 30; 354(9189):1562. View abstract
  166. Importance of measuring plasma cholesterol precursors. Am J Med Genet. 1999 Jan 15; 82(2):199. View abstract
  167. Effects of fish oil supplementation on apolipoprotein B100 production and lipoprotein metabolism in normolipidaemic males. Eur J Clin Nutr. 1998 Feb; 52(2):104-9. View abstract
  168. Increased resting energy expenditure in glycogen storage disease type Ia. J Inherit Metab Dis. 1998 Feb; 21(1):80-1. View abstract
  169. Leucine and glucose kinetics in glycogen storage disease type IIIa. J Inherit Metab Dis. 1997 Nov; 20(6):847. View abstract
  170. Dietary treatment in late-onset acid maltase deficiency. Eur J Pediatr. 1997 Aug; 156 Suppl 1:S39-42. View abstract
  171. Protein turnover in critically ill children. Eur J Pediatr. 1997 Aug; 156 Suppl 1:S59-61. View abstract
  172. Assessment of energy expenditure in metabolic disorders. Eur J Pediatr. 1997 Aug; 156 Suppl 1:S24-8. View abstract
  173. Measurement of glucose turnover--implications for the study of inborn errors of metabolism. Eur J Pediatr. 1997 Aug; 156 Suppl 1:S35-8. View abstract
  174. Stable isotope studies in inborn errors of metabolism--implications and conclusions. Eur J Pediatr. 1997 Aug; 156 Suppl 1:S88-9. View abstract
  175. H2-breath tests--importance of adequate storage of breath samples. J Pediatr Gastroenterol Nutr. 1997 Apr; 24(4):450-1. View abstract
  176. Medicine in Germany. Lancet. 1997 Feb 15; 349(9050):508. View abstract
  177. Intermittent maple syrup disease. Lancet. 1996 Jan 20; 347(8995):191-2. View abstract