Information

Related Research Units

Intellectual and Developmental Disabilities Research Center Research
The Manton Center for Orphan Disease Research
Genetics and Genomics Research

Research Overview

Dr. Bodamer’s laboratory studies multifaceted human phenotypes, including prematurity, Kabuki and Kabukilike syndromes, and lysosomal storage disorders. His laboratory uses a translational science approach with the goals to 1) identify novel underlying molecular mechanisms of disease; 2) understand phenotypic variability at the molecular level; and to 3) ultimately identify novel biomarkers and therapeutic approaches. His laboratory closely collaborates with different clinical specialties at Boston

Laboratory Projects:

  1. Deep Phenotyping of Kabuki Syndrome: Our laboratory studies the underlying disease mechanism in Kabuki and Kabuki-like syndromes using a novel systems biology approach in humans and animal models. The goal is to gain a better understanding of phenotypic variability with the potential to identify therapeutic targets.
  2. Precision Medicine and Premature Birth (PMAP study):We currently collect longitudinal data on the complex interplay of the environment, microbiome, proteome, metabolome, transcriptome, methylome and genome during term and preterm pregnancies, and post-natal infancy to understand the pathophysiology of preterm birth using a systems biology approach.

Research Background

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 moved to the United States for a fellowship in Clinical and Biochemical Genetics at Baylor College of Medicine, Houston, Texas. Subsequent to directing the Austrian Newborn Screening Program, he returned to the United States in 2010 to join 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 also has an established 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.

Selected Publications

  1. Hung CY, Volkmar B, Baker JD, Bauer JW, Gussoni E, Hainzl S, Klausegger A, Lorenzo J, Mihalek I, Rittinger O, Tekin M, Dallman JE, Bodamer OA. A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure. PLoS One. 2017; 12:1-17.
  2. Tuschl K, …., Bodamer OA et al. Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. Nat Commun 2016; 7:1-16.
  3. Koenighofer M, Hung CY, McCauley JL, Dallman J, Back EJ, Mihalek I, Gripp KW, Sol-Church K, Rusconi P, Zhang Z, Shi GX, Andres DA, Bodamer OA. Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype. Clin Genet. 2016; 89:359-266.

 

Education

Medical School

Medical School Medical School Heidelberg
1989 Heidelberg Germany

Residency

Great Ormond Street Hospital for Children
1997 London United Kingdom

Fellowship

Postdoctoral Baylor College of Medicine
2001 Houston TX

Publications

  1. Animal models of kabuki syndrome and their applicability to novel drug discovery. Expert Opin Drug Discov. 2025 Jan 25. View Abstract
  2. Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon. Nat Genet. 2024 Nov; 56(11):2287-2294. View Abstract
  3. KMT2D regulates activation, localization, and integrin expression by T-cells. Front Immunol. 2024; 15:1341745. View Abstract
  4. Characterization of central manifestations in patients with Niemann-Pick disease type C. Genet Med. 2024 03; 26(3):101053. View Abstract
  5. Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators. Front Public Health. 2023; 11:1248260. View Abstract
  6. Characterizing the molecular impact of KMT2D variants on the epigenetic and transcriptional landscapes in Kabuki syndrome. Hum Mol Genet. 2023 06 19; 32(13):2251-2261. View Abstract
  7. Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases. Mol Genet Metab. 2023 07; 139(3):107626. View Abstract
  8. Insights into the genotype-phenotype relationship of ocular manifestations in Kabuki syndrome. Am J Med Genet A. 2023 05; 191(5):1325-1338. View Abstract
  9. Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International. Front Public Health. 2023; 11:1079601. View Abstract
  10. A case of Aicardi syndrome associated with duplication event of Xp22 including SHOX. Ophthalmic Genet. 2023 Dec; 44(6):591-594. View Abstract
  11. Persistent Lactic Acidosis in an Infant With Milk Protein Allergy. Clin Pediatr (Phila). 2023 09; 62(8):951-955. View Abstract
  12. From Genotype to Phenotype-A Review of Kabuki Syndrome. Genes (Basel). 2022 Sep 29; 13(10). View Abstract
  13. Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One). Front Genet. 2022; 13:867337. View Abstract
  14. Assessment of Glucocerebrosidase Enzyme Activity in Parkinson Disease Using Multiple Approaches. Mov Disord. 2022 03; 37(3):655-656. View Abstract
  15. A solid start for gene therapy in Tay-Sachs disease. Nat Med. 2022 02; 28(2):236-237. View Abstract
  16. Targeting neurological abnormalities in lysosomal storage diseases. Trends Pharmacol Sci. 2022 06; 43(6):495-509. View Abstract
  17. Lysine methyltransferase 2D regulates muscle fiber size and muscle cell differentiation. FASEB J. 2021 11; 35(11):e21955. View Abstract
  18. Neuroimaging in Kabuki syndrome and another KMT2D-related disorder. Am J Med Genet A. 2021 12; 185(12):3770-3783. View Abstract
  19. Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates. Cell Rep. 2021 06 08; 35(10):109226. View Abstract
  20. Caring for Caregivers: Implications for Providing Authentic Family-Centered Care. Pediatrics. 2021 05; 147(5). View Abstract
  21. The otolaryngologic manifestations of Sotos syndrome 1: A systematic review. Int J Pediatr Otorhinolaryngol. 2021 Apr; 143:110649. View Abstract
  22. 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
  23. 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
  24. 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
  25. 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
  26. 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
  27. Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome. Mol Psychiatry. 2021 06; 26(6):2013-2024. View Abstract
  28. The tale of two genes: from next-generation sequencing to phenotype. Cold Spring Harb Mol Case Stud. 2020 04; 6(2). View Abstract
  29. 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
  30. 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
  31. 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
  32. 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
  33. ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2020 Jan 02; 106(1):137. View Abstract
  34. Holoprosencephaly in Kabuki syndrome. Am J Med Genet A. 2020 03; 182(3):441-445. View Abstract
  35. 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
  36. 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
  37. Prenatal and perinatal history in Kabuki Syndrome. Am J Med Genet A. 2020 01; 182(1):85-92. View Abstract
  38. 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
  39. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. N Engl J Med. 2019 10 24; 381(17):1644-1652. View Abstract
  40. 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
  41. A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome. Am J Med Genet A. 2019 09; 179(9):1866-1871. View Abstract
  42. Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Eur J Hum Genet. 2019 09; 27(9):1398-1405. View Abstract
  43. Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. Epilepsia. 2019 03; 60(3):406-418. View Abstract
  44. ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2019 02 07; 104(2):319-330. View Abstract
  45. 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
  46. Kabuki syndrome: international consensus diagnostic criteria. J Med Genet. 2019 02; 56(2):89-95. View Abstract
  47. Injury type-dependent differentiation of NG2 glia into heterogeneous astrocytes. Exp Neurol. 2018 10; 308:72-79. View Abstract
  48. 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
  49. Expanding the clinical spectrum of biallelic ZNF335 variants. Clin Genet. 2018 08; 94(2):246-251. View Abstract
  50. A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure. PLoS One. 2017; 12(12):e0189324. View Abstract
  51. The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases. Mov Disord Clin Pract. 2018 Mar-Apr; 5(2):149-155. View Abstract
  52. 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
  53. 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
  54. Newborn Screening for Pompe Disease. Pediatrics. 2017 Jul; 140(Suppl 1):S4-S13. View Abstract
  55. 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
  56. 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
  57. Dark Colored Urine in a 2-Year-Old Child. Clin Chem. 2017 03; 63(3):786-788. View Abstract
  58. 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
  59. Newborn Screening for Lysosomal Storage Disorders. J Pediatr Genet. 2017 Mar; 6(1):51-60. View Abstract
  60. Newborn Screening for Lysosomal Storage Disorders: Quo Vadis? Clin Chem. 2016 11; 62(11):1430-1438. View Abstract
  61. Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. Nat Commun. 2016 05 27; 7:11601. View Abstract
  62. 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
  63. Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype. Clin Genet. 2016 Mar; 89(3):359-66. View Abstract
  64. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. J Med Genet. 2015 Jun; 52(6):413-21. View Abstract
  65. Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I. Curr Protoc Hum Genet. 2015 Jan 20; 84:17.17.1-17.17.8. View Abstract
  66. Liver, pancreas and kidney transplantation for the treatment of Wolcott-Rallison syndrome. Am J Transplant. 2015 Feb; 15(2):565-7. View Abstract
  67. Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening. Best Pract Res Clin Endocrinol Metab. 2015 Mar; 29(2):145-57. View Abstract
  68. Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry. Clin Chim Acta. 2015 Jan 01; 438:195-204. View Abstract
  69. The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape. Mol Genet Metab. 2014 Sep-Oct; 113(1-2):34-41. View Abstract
  70. Diagnosis of lysosomal storage disorders: Gaucher disease. Curr Protoc Hum Genet. 2014 Jul 14; 82:17.15.1-17.15.6. View Abstract
  71. Screening for late-onset Pompe disease in Finland. Neuromuscul Disord. 2014 Nov; 24(11):982-5. View Abstract
  72. 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
  73. 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
  74. Phenylketonuria Scientific Review Conference: state of the science and future research needs. Mol Genet Metab. 2014 Jun; 112(2):87-122. View Abstract
  75. 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
  76. Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. Am J Med Genet A. 2014 Mar; 164A(3):627-33. View Abstract
  77. Update on transcobalamin deficiency: clinical presentation, treatment and outcome. J Inherit Metab Dis. 2014 May; 37(3):461-73. View Abstract
  78. Diagnosing lysosomal storage disorders: mucopolysaccharidosis type II. Curr Protoc Hum Genet. 2013 Oct 18; 79:17.14.1-17.14.9. View Abstract
  79. 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
  80. Analysis of lyso-globotriaosylsphingosine in dried blood spots. Ann Lab Med. 2013 Jul; 33(4):274-8. View Abstract
  81. Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. Orphanet J Rare Dis. 2013 Jan 10; 8:6. View Abstract
  82. Diagnosing lysosomal storage disorders: Fabry disease. Curr Protoc Hum Genet. 2013; Chapter 17:Unit17.13. View Abstract
  83. 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
  84. Diagnosing lysosomal storage disorders: Pompe disease. Curr Protoc Hum Genet. 2012 Oct; Chapter 17:Unit17.11. View Abstract
  85. Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations. Pediatrics. 2012 Oct; 130(4):e1034-9. View Abstract
  86. Analysis of acid sphingomyelinase activity in dried blood spots using tandem mass spectrometry. Ann Lab Med. 2012 Sep; 32(5):319-23. View Abstract
  87. Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure. Orphanet J Rare Dis. 2012 Apr 23; 7:22. View Abstract
  88. 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
  89. 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
  90. Newborn screening for lysosomal storage disorders in hungary. JIMD Rep. 2012; 6:117-25. View Abstract
  91. Enhanced interpretation of newborn screening results without analyte cutoff values. Genet Med. 2012 Jul; 14(7):648-55. View Abstract
  92. Expert recommendations for the laboratory diagnosis of MPS VI. Mol Genet Metab. 2012 May; 106(1):73-82. View Abstract
  93. 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
  94. Propionic acidemia: neonatal versus selective metabolic screening. J Inherit Metab Dis. 2012 Jan; 35(1):41-9. View Abstract
  95. 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
  96. 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
  97. Mutation analysis in 54 propionic acidemia patients. J Inherit Metab Dis. 2012 Jan; 35(1):51-63. View Abstract
  98. 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
  99. 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
  100. 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
  101. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May; 13(5):457-84. View Abstract
  102. 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
  103. Early access experience with VPRIV(®): recommendations for 'core data' collection. Blood Cells Mol Dis. 2011 Aug 15; 47(2):140-2. View Abstract
  104. 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
  105. 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
  106. 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
  107. Laboratory and genetic evaluation of Gaucher disease. Wien Med Wochenschr. 2010 Dec; 160(23-24):600-4. View Abstract
  108. Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation. Arch Dis Child. 2010 Apr; 95(4):296-301. View Abstract
  109. 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
  110. 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
  111. Magnetic resonance spectroscopy in patients with Fabry and Gaucher disease. Eur J Radiol. 2011 Aug; 79(2):295-8. View Abstract
  112. 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
  113. A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia. Laryngoscope. 2010 Feb; 120(2):359-64. View Abstract
  114. 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
  115. 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
  116. 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
  117. Danon disease: case report and detection of new mutation. J Inherit Metab Dis. 2009 Dec; 32 Suppl 1:S115-22. View Abstract
  118. Transcobalamin II deficiency at birth. Mol Genet Metab. 2009 Nov; 98(3):285-8. View Abstract
  119. 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
  120. Low creatinine: the diagnostic clue for a treatable neurologic disorder. Neurology. 2009 Mar 03; 72(9):854-5. View Abstract
  121. 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
  122. 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
  123. 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
  124. Heparin cofactor II-thrombin complex: a biomarker of MPS disease. Mol Genet Metab. 2008 Aug; 94(4):456-461. View Abstract
  125. 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
  126. Congenital disorders of glycosylation--a challenging group of IEMs. J Inherit Metab Dis. 2008 Apr; 31(2):267-9. View Abstract
  127. 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
  128. Total homocysteine, B-vitamins and genetic polymorphisms in patients with classical phenylketonuria. Mol Genet Metab. 2008 May; 94(1):46-51. View Abstract
  129. Newborn screening in Fabry disease: what can be achieved with early diagnosis? Clin Ther. 2008; 30 Suppl B:S41. View Abstract
  130. 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
  131. 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
  132. 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
  133. Trisomy 1q42.3-qter and monosomy 21q22.3-qter associated with ear anomaly, facial dysmorphology, psychomotor retardation, and epilepsy: delineation of a new syndrome. Am J Med Genet A. 2007 Sep 01; 143A(17):2065-9. View Abstract
  134. Expanded newborn screening in Europe 2007. J Inherit Metab Dis. 2007 Aug; 30(4):439-44. View Abstract
  135. 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
  136. Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III. Mol Genet Metab. 2007 Aug; 91(4):379-83. View Abstract
  137. Severe speech delay as the presenting symptom of guanidinoacetate methyltransferase deficiency. J Child Neurol. 2007 Jun; 22(6):773-4. View Abstract
  138. Methylation status in females with rett syndrome. J Child Neurol. 2007 May; 22(5):635-8. View Abstract
  139. Long-term stability of amino acids and acylcarnitines in dried blood spots. Clin Chem. 2007 Apr; 53(4):717-22. View Abstract
  140. 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
  141. 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
  142. 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
  143. Glucose and leucine kinetics in idiopathic ketotic hypoglycaemia. Arch Dis Child. 2006 Jun; 91(6):483-6. View Abstract
  144. Prenatal and postnatal treatment in cobalamin C defect. J Pediatr. 2005 Oct; 147(4):469-72. View Abstract
  145. 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
  146. Central nervous system malformations in oral-facial-digital syndrome, type 1. Am J Med Genet A. 2005 Jul 15; 136(2):218. View Abstract
  147. Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency. Neurology. 2005 Jun 28; 64(12):2142-4. View Abstract
  148. Mucopolysaccharidosis type II in females: case report and review of literature. Pediatr Neurol. 2005 Apr; 32(4):270-2. View Abstract
  149. Creatine metabolism in combined methylmalonic aciduria and homocystinuria. Ann Neurol. 2005 Apr; 57(4):557-60. View Abstract
  150. Rapid analysis of total plasma homocysteine by tandem mass spectrometry. Clin Chim Acta. 2005 Jan; 351(1-2):139-41. View Abstract
  151. Microarray-based detection of mannose-binding lectin 2 (MBL2) polymorphisms in a routine clinical setting. Genet Test. 2005; 9(1):6-13. View Abstract
  152. 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
  153. Fabry disease defined. Eur J Clin Invest. 2004 Jun; 34(6):449; author reply 450. View Abstract
  154. Recurrent acroparaesthesia during febrile infections. Lancet. 2004 May 22; 363(9422):1698. View Abstract
  155. Characterization of seven novel mutations in seven patients with GAMT deficiency. Hum Mutat. 2004 May; 23(5):524. View Abstract
  156. Hypoketotic hypofattyacidaemic hypoinsulinaemic hypoglycaemia in a child with hemihypertrophy? A new syndrome. Horm Res. 2004; 61(5):222-7. View Abstract
  157. Nuclear magnetic resonance spectroscopy in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2004; 27(6):877-83. View Abstract
  158. 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
  159. Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism. J Inherit Metab Dis. 2003; 26(2-3):299-308. View Abstract
  160. Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy. J Inherit Metab Dis. 2003; 26(8):761-73. View Abstract
  161. Utilization of cornstarch in glycogen storage disease type Ia. Eur J Gastroenterol Hepatol. 2002 Nov; 14(11):1251-6. View Abstract
  162. Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia. Clin Chem. 2002 Nov; 48(11):1913-8. View Abstract
  163. L-alanine supplementation in late infantile glycogen storage disease type II. Pediatr Neurol. 2002 Aug; 27(2):145-6. View Abstract
  164. Familial complex chromosomal rearrangement resulting in a recombinant chromosome. Am J Med Genet. 2002 May 15; 109(4):311-7. View Abstract
  165. 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
  166. 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
  167. Practical management of combined methylmalonicaciduria and homocystinuria. J Child Neurol. 2002 May; 17(5):353-6. View Abstract
  168. Multiple fractures in a 3-month-old infant with severe infantile osteopetrosis. J Paediatr Child Health. 2001 Oct; 37(5):520-2. View Abstract
  169. Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry. Clin Chim Acta. 2001 Jun; 308(1-2):173-8. View Abstract
  170. Uses of stable isotopes in clinical diagnosis and research in the paediatric population. Arch Dis Child. 2001 May; 84(5):444-8. View Abstract
  171. Adult-onset combined methylmalonic aciduria and homocystinuria (cblC). Neurology. 2001 Apr 24; 56(8):1113. View Abstract
  172. Atypical presentation of amniotic band sequence. Am J Med Genet. 2001 Apr 22; 100(2):100-2. View Abstract
  173. 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
  174. Subdural hematomas and glutaric aciduria type I. Pediatrics. 2001 Feb; 107(2):451. View Abstract
  175. The effects of l-alanine supplementation in late-onset glycogen storage disease type II. Neurology. 2000 Sep 12; 55(5):710-2. View Abstract
  176. 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
  177. Resting energy expenditure in disorders of propionate metabolism. J Pediatr. 2000 May; 136(5):659-63. View Abstract
  178. Deletion (9) (p13.1 p21.1). Am J Med Genet. 2000 Mar 13; 91(2):113-5. View Abstract
  179. Psychiatric symptoms of inherited metabolic disease. J Inherit Metab Dis. 2000 Feb; 23(1):2-6. View Abstract
  180. Protein, glucose and energy metabolism in Gaucher disease type I. J Inherit Metab Dis. 2000 Feb; 23(1):86-7. View Abstract
  181. Sublingual therapy for cobalamin deficiency. Lancet. 1999 Oct 30; 354(9189):1562. View Abstract
  182. Importance of measuring plasma cholesterol precursors. Am J Med Genet. 1999 Jan 15; 82(2):199. View Abstract
  183. Increased resting energy expenditure in glycogen storage disease type Ia. J Inherit Metab Dis. 1998 Feb; 21(1):80-1. View Abstract
  184. 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
  185. Leucine and glucose kinetics in glycogen storage disease type IIIa. J Inherit Metab Dis. 1997 Nov; 20(6):847. View Abstract
  186. Assessment of energy expenditure in metabolic disorders. Eur J Pediatr. 1997 Aug; 156 Suppl 1:S24-8. View Abstract
  187. 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
  188. Dietary treatment in late-onset acid maltase deficiency. Eur J Pediatr. 1997 Aug; 156 Suppl 1:S39-42. View Abstract
  189. Stable isotope studies in inborn errors of metabolism--implications and conclusions. Eur J Pediatr. 1997 Aug; 156 Suppl 1:S88-9. View Abstract
  190. Protein turnover in critically ill children. Eur J Pediatr. 1997 Aug; 156 Suppl 1:S59-61. View Abstract
  191. H2-breath tests--importance of adequate storage of breath samples. J Pediatr Gastroenterol Nutr. 1997 Apr; 24(4):450-1. View Abstract
  192. Medicine in Germany. Lancet. 1997 Feb 15; 349(9050):508. View Abstract
  193. Intermittent maple syrup disease. Lancet. 1996 Jan 20; 347(8995):191-2. View Abstract

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