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Olaf Bodamer, Ph.D., M.D.

Title
Institution
Department
Address
Profile Picture

Biography
education and training
Rupprecht Karl University Medical School, Heidelberg, GermanyM.D.12/1989Medicine
University Saarland Medical School, Homburg/Saar, GermanyPh.D.04/1994Perinatology
Great Ormond Street Hospital, London, UK06/1997Pediatrics
Baylor College of Medicine, Houston, TX06/2000Clinical Genetics
Baylor College of Medicine, Houston, TX06/2001Biochemical Genetics
awards and honors
2008
doctoris honoris causa Semelweiss University Budapest, Hungary
2012
doctors honoris causa Universidas Del Este, San Pedro, DR

Overview
overview
As the Associate (Clinical) Chief of the Division of Genetics and Genomics I view myself at the nexus of Clinical Genetics and Translational Science where “bench meets the bedside” providing vital expertise in the fields of Pediatrics, Biochemistry, Human and Molecular Genetics. In addition to providing leadership to the Boston Children's Lysosomal Disease (BoLD) program I have recently initiated the Roya Kabuki Syndrome Program at Boston Children's Hospital together with Emanuela Gussoni PhD.
keywords
webpage

Bibliographic
selected publications
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. Yavuz Saricay L, Hoyek S, Ashit Parikh A, Baldwin G, Bodamer OA, Gonzalez E, Patel NA. A case of Aicardi syndrome associated with duplication event of Xp22 including SHOX. Ophthalmic Genet. 2023 Feb 02; 1-4. PMID: 36728747.
    Citations:    Fields:    
  2. Rabinowitz DG, Brewster RCL, Juttukonda LJ, Bodamer OA, Palma MJ. Persistent Lactic Acidosis in an Infant With Milk Protein Allergy. Clin Pediatr (Phila). 2022 Dec 29; 99228221148076. PMID: 36579865.
    Citations:    Fields:    
  3. Barry KK, Tsaparlis M, Hoffman D, Hartman D, Adam MP, Hung C, Bodamer OA. From Genotype to Phenotype-A Review of Kabuki Syndrome. Genes (Basel). 2022 Sep 29; 13(10). PMID: 36292647; PMCID: PMC9601850.
    Citations: 1     Fields:    
  4. Brower A, Chan K, Williams M, Berry S, Currier R, Rinaldo P, Caggana M, Gaviglio A, Wilcox W, Steiner R, Holm IA, Taylor J, Orsini JJ, Brunelli L, Adelberg J, Bodamer O, Viall S, Scharfe C, Wasserstein M, Chen JY, Escolar M, Goldenberg A, Swoboda K, Ficicioglu C, Matern D, Lee R, Watson M. Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One). Front Genet. 2022; 13:867337. PMID: 35938011; PMCID: PMC9354846.
    Citations: 3     
  5. Yu TW, Bodamer O. A solid start for gene therapy in Tay-Sachs disease. Nat Med. 2022 02; 28(2):236-237. PMID: 35145310.
    Citations:    Fields:    Translation:Humans
  6. Ortega RA, Bodamer O, Peake RWA, Raymond D, Bressman SB, Saunders-Pullman R. Assessment of Glucocerebrosidase Enzyme Activity in Parkinson Disease Using Multiple Approaches. Mov Disord. 2022 03; 37(3):655-656. PMID: 35106836; PMCID: PMC9948675.
    Citations:    Fields:    Translation:Humans
  7. van Gool R, Tucker-Bartley A, Yang E, Todd N, Guenther F, Goodlett B, Al-Hertani W, Bodamer OA, Upadhyay J. Targeting neurological abnormalities in lysosomal storage diseases. Trends Pharmacol Sci. 2022 06; 43(6):495-509. PMID: 34844772.
    Citations: 1     Fields:    Translation:HumansCells
  8. Wright A, Hall A, Daly T, Fontelonga T, Potter S, Schafer C, Lindsley A, Hung C, Bodamer O, Gussoni E. Lysine methyltransferase 2D regulates muscle fiber size and muscle cell differentiation. FASEB J. 2021 11; 35(11):e21955. PMID: 34613626; PMCID: PMC8500524.
    Citations:    Fields:    Translation:HumansAnimalsCells
  9. Stadelmaier RT, Kenna MA, Barrett D, Mullen TE, Bodamer O, Agrawal PB, Robson CD, Wojcik MH. Neuroimaging in Kabuki syndrome and another KMT2D-related disorder. Am J Med Genet A. 2021 12; 185(12):3770-3783. PMID: 34369642; PMCID: PMC8595668.
    Citations: 1     Fields:    Translation:Humans
  10. MacPherson MJ, Erickson SL, Kopp D, Wen P, Aghanoori MR, Kedia S, Burns KML, Vitobello A, Tran Mau-Them F, Thomas Q, Gold NB, Brucker W, Amlie-Wolf L, Gripp KW, Bodamer O, Faivre L, Muona M, Menzies L, Baptista J, Guegan K, Male A, Wei XC, He G, Long Q, Innes AM, Yang G. Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates. Cell Rep. 2021 06 08; 35(10):109226. PMID: 34107259.
    Citations: 2     Fields:    Translation:HumansCells
  11. Antonelli RC, Bodamer O. Caring for Caregivers: Implications for Providing Authentic Family-Centered Care. Pediatrics. 2021 05; 147(5). PMID: 33811180.
    Citations:    Fields:    Translation:Humans
  12. Danis DO, Bodamer O, Levi JR. The otolaryngologic manifestations of Sotos syndrome 1: A systematic review. Int J Pediatr Otorhinolaryngol. 2021 Apr; 143:110649. PMID: 33640723.
    Citations:    Fields:    Translation:Humans
  13. Abu-El-Haija A, McGowan C, Vanderveen D, Bodamer O. 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. PMID: 33179441.
    Citations:    Fields:    Translation:Humans
  14. Shah SS, Rashid A, Bodamer OA. Congenital microgastria-limb reduction association: A case report and review of the literature. Am J Med Genet A. 2020 12; 182(12):2976-2981. PMID: 32945605.
    Citations:    Fields:    Translation:Humans
  15. Almontashiri NAM, Zha L, Young K, Law T, Kellogg MD, Bodamer OA, Peake RWA. 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. PMID: 32636473.
    Citations:    Fields:    
  16. Almontashiri NAM, Zha L, Young K, Law T, Kellogg MD, Bodamer OA, Peake RWA. Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study. Sci Rep. 2020 06 10; 10(1):9382. PMID: 32523032.
    Citations: 7     Fields:    Translation:Humans
  17. Wu CW, Mann N, Nakayama M, Connaughton DM, Dai R, Kolvenbach CM, Kause F, Ottlewski I, Wang C, Klämbt V, Seltzsam S, Lai EW, Selvin A, Senguttuva P, Bodamer O, Stein DR, El Desoky S, Kari JA, Tasic V, Bauer SB, Shril S, Hildebrandt F. 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. PMID: 32475988; PMCID: PMC8220407.
    Citations: 3     Fields:    Translation:Humans
  18. Kummeling J, Stremmelaar DE, Raun N, Reijnders MRF, Willemsen MH, Ruiterkamp-Versteeg M, Schepens M, Man CCO, Gilissen C, Cho MT, McWalter K, Sinnema M, Wheless JW, Simon MEH, Genetti CA, Casey AM, Terhal PA, van der Smagt JJ, van Gassen KLI, Joset P, Bahr A, Steindl K, Rauch A, Keller E, Raas-Rothschild A, Koolen DA, Agrawal PB, Hoffman TL, Powell-Hamilton NN, Thiffault I, Engleman K, Zhou D, Bodamer O, Hoefele J, Riedhammer KM, Schwaibold EMC, Tasic V, Schubert D, Top D, Pfundt R, Higgs MR, Kramer JM, Kleefstra T. Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome. Mol Psychiatry. 2021 06; 26(6):2013-2024. PMID: 32346159.
    Citations: 8     Fields:    Translation:HumansAnimals
  19. Rohanizadegan M, Siddharath A, Retterer K, Hung C, Bodamer O. The tale of two genes: from next-generation sequencing to phenotype. Cold Spring Harb Mol Case Stud. 2020 04; 6(2). PMID: 31969346.
    Citations: 1     Fields:    Translation:Humans
  20. Brucker WJ, Croteau SE, Prensner JR, Cullion K, Heeney MM, Lo J, McAlvin JB, Peeler K, Shah N, Yee CSK, Berry GT, Bodamer O. An emerging role for endothelial barrier support therapy for congenital disorders of glycosylation. J Inherit Metab Dis. 2020 07; 43(4):880-890. PMID: 32064623.
    Citations: 7     Fields:    Translation:HumansCells
  21. Nambot S, Faivre L, Mirzaa G, Thevenon J, Bruel AL, Mosca-Boidron AL, Masurel-Paulet A, Goldenberg A, Le Meur N, Charollais A, Mignot C, Petit F, Rossi M, Metreau J, Layet V, Amram D, Boute-Bénéjean O, Bhoj E, Cousin MA, Kruisselbrink TM, Lanpher BC, Klee EW, Fiala E, Grange DK, Meschino WS, Hiatt SM, Cooper GM, Olivié H, Smith WE, Dumas M, Lehman A, Inglese C, Nizon M, Guerrini R, Vetro A, Kaplan ES, Miramar D, Van Gils J, Fergelot P, Bodamer O, Herkert JC, Pajusalu S, Õunap K, Filiano JJ, Smol T, Piton A, Gérard B, Chantot-Bastaraud S, Bienvenu T, Li D, Juusola J, Devriendt K, Bilan F, Poé C, Chevarin M, Jouan T, Tisserant E, Rivière JB, Tran Mau-Them F, Philippe C, Duffourd Y, Dobyns WB, Hevner R, Thauvin-Robinet C. 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. PMID: 32005960.
    Citations: 8     Fields:    Translation:HumansAnimals
  22. Sidhu R, Kell P, Dietzen DJ, Farhat NY, Do AND, Porter FD, Berry-Kravis E, Vite CH, Reunert J, Marquardt T, Giugliani R, Lourenço CM, Bodamer O, Wang RY, Plummer E, Schaffer JE, Ory DS, Jiang X. 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. PMID: 32033912; PMCID: PMC7145728.
    Citations: 8     Fields:    Translation:HumansAnimals
  23. Wang Y, Li N, Su Z, Xu Y, Liu S, Chen Y, Li X, Shen Y, Hung C, Wang J, Wang X, Bodamer O. 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. PMID: 31883305.
    Citations: 3     Fields:    Translation:Humans
  24. Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marçais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M, Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Céraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram S. ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2020 Jan 02; 106(1):137. PMID: 31879022; PMCID: PMC7042478.
    Citations: 1     Fields:    
  25. Daly T, Roberts A, Yang E, Mochida GH, Bodamer O. Holoprosencephaly in Kabuki syndrome. Am J Med Genet A. 2020 03; 182(3):441-445. PMID: 31846209.
    Citations: 1     Fields:    Translation:Humans
  26. Luperchio TR, Applegate CD, Bodamer O, Bjornsson HT. Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life. Mol Genet Genomic Med. 2020 02; 8(2):e1072. PMID: 31814321; PMCID: PMC7005614.
    Citations: 1     Fields:    Translation:Humans
  27. Gubbels CS, VanNoy GE, Madden JA, Copenheaver D, Yang S, Wojcik MH, Gold NB, Genetti CA, Stoler J, Parad RB, Roumiantsev S, Bodamer O, Beggs AH, Juusola J, Agrawal PB, Yu TW. 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. PMID: 31780822; PMCID: PMC7127968.
    Citations: 26     Fields:    Translation:Humans
  28. Rosenberg CE, Daly T, Hung C, Hsueh I, Lindsley AW, Bodamer O. Prenatal and perinatal history in Kabuki Syndrome. Am J Med Genet A. 2020 01; 182(1):85-92. PMID: 31654559.
    Citations: 2     Fields:    Translation:Humans
  29. Kritzer A, Siddharth A, Leestma K, Bodamer O. 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. PMID: 31660293; PMCID: PMC6807367.
    Citations: 3     
  30. Kim J, Hu C, Moufawad El Achkar C, Black LE, Douville J, Larson A, Pendergast MK, Goldkind SF, Lee EA, Kuniholm A, Soucy A, Vaze J, Belur NR, Fredriksen K, Stojkovska I, Tsytsykova A, Armant M, DiDonato RL, Choi J, Cornelissen L, Pereira LM, Augustine EF, Genetti CA, Dies K, Barton B, Williams L, Goodlett BD, Riley BL, Pasternak A, Berry ER, Pflock KA, Chu S, Reed C, Tyndall K, Agrawal PB, Beggs AH, Grant PE, Urion DK, Snyder RO, Waisbren SE, Poduri A, Park PJ, Patterson A, Biffi A, Mazzulli JR, Bodamer O, Berde CB, Yu TW. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. N Engl J Med. 2019 10 24; 381(17):1644-1652. PMID: 31597037; PMCID: PMC6961983.
    Citations: 157     Fields:    Translation:Humans
  31. Liang L, Li X, Moutton S, Schrier Vergano SA, Cogné B, Saint-Martin A, Hurst ACE, Hu Y, Bodamer O, Thevenon J, Hung CY, Isidor B, Gerard B, Rega A, Nambot S, Lehalle D, Duffourd Y, Thauvin-Robinet C, Faivre L, Bézieau S, Dure LS, Helbling DC, Bick D, Xu C, Chen Q, Mancini GMS, Vitobello A, Wang QK. 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. PMID: 31152168; PMCID: PMC6735855.
    Citations: 22     Fields:    Translation:HumansCells
  32. Hung CY, Rodriguez M, Roberts A, Bauer M, Mihalek I, Bodamer O. A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome. Am J Med Genet A. 2019 09; 179(9):1866-1871. PMID: 31297960.
    Citations: 8     Fields:    Translation:HumansCells
  33. Schmitz-Abe K, Li Q, Rosen SM, Nori N, Madden JA, Genetti CA, Wojcik MH, Ponnaluri S, Gubbels CS, Picker JD, O'Donnell-Luria AH, Yu TW, Bodamer O, Brownstein CA, Beggs AH, Agrawal PB. Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Eur J Hum Genet. 2019 09; 27(9):1398-1405. PMID: 30979967.
    Citations: 18     Fields:    Translation:Humans
  34. Kelly M, Park M, Mihalek I, Rochtus A, Gramm M, Pérez-Palma E, Axeen ET, Hung CY, Olson H, Swanson L, Anselm I, Briere LC, High FA, Sweetser DA, Kayani S, Snyder M, Calvert S, Scheffer IE, Yang E, Waugh JL, Lal D, Bodamer O, Poduri A. Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. Epilepsia. 2019 03; 60(3):406-418. PMID: 30682224.
    Citations: 17     Fields:    Translation:Humans
  35. Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marçais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M, Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Céraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram S. ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2019 02 07; 104(2):319-330. PMID: 30639322.
    Citations: 7     Fields:    Translation:HumansAnimals
  36. Yap KL, Johnson AEK, Fischer D, Kandikatla P, Deml J, Nelakuditi V, Halbach S, Jeha GS, Burrage LC, Bodamer O, Benavides VC, Lewis AM, Ellard S, Shah P, Cody D, Diaz A, Devarajan A, Truong L, Greeley SAW, De Leon DD, Edmondson AC, Das S, Thornton P, Waggoner D, Del Gaudio D. 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. PMID: 30097611.
    Citations: 3     Fields:    
  37. Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N. Kabuki syndrome: international consensus diagnostic criteria. J Med Genet. 2019 02; 56(2):89-95. PMID: 30514738.
    Citations: 42     Fields:    Translation:Humans
  38. Hackett AR, Yahn SL, Lyapichev K, Dajnoki A, Lee DH, Rodriguez M, Cammer N, Pak J, Mehta ST, Bodamer O, Lemmon VP, Lee JK. Injury type-dependent differentiation of NG2 glia into heterogeneous astrocytes. Exp Neurol. 2018 10; 308:72-79. PMID: 30008424; PMCID: PMC6704012.
    Citations: 19     Fields:    Translation:AnimalsCells
  39. Yap KL, Johnson AEK, Fischer D, Kandikatla P, Deml J, Nelakuditi V, Halbach S, Jeha GS, Burrage LC, Bodamer O, Benavides VC, Lewis AM, Ellard S, Shah P, Cody D, Diaz A, Devarajan A, Truong L, Greeley SAW, De Leó-Crutchlow DD, Edmondson AC, Das S, Thornton P, Waggoner D, Del Gaudio D. 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. PMID: 29907798; PMCID: PMC7597849.
    Citations: 16     Fields:    Translation:Humans
  40. Stouffs K, Stergachis AB, Vanderhasselt T, Dica A, Janssens S, Vandervore L, Gheldof A, Bodamer O, Keymolen K, Seneca S, Liebaers I, Jayaraman D, Hill HE, Partlow JN, Walsh CA, Jansen AC. Expanding the clinical spectrum of biallelic ZNF335 variants. Clin Genet. 2018 08; 94(2):246-251. PMID: 29652087; PMCID: PMC6361164.
    Citations: 5     Fields:    Translation:HumansCells
  41. 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(12):e0189324. PMID: 29228025.
    Citations: 3     Fields:    Translation:HumansAnimals
  42. Ebrahimi-Fakhari D, Hildebrandt C, Davis PE, Rodan LH, Anselm I, Bodamer O. The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases. Mov Disord Clin Pract. 2018 Mar-Apr; 5(2):149-155. PMID: 29930972; PMCID: PMC6005694.
    Citations: 5     
  43. Rohanizadegan M, Abdo SM, O'Donnell-Luria A, Mihalek I, Chen P, Sanders M, Leeman K, Cho M, Hung C, Bodamer O. 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). PMID: 28802248; PMCID: PMC5701306.
    Citations: 3     Fields:    Translation:Humans
  44. Iqbal F, Hoeger H, Lubec G, Bodamer O. 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. PMID: 28808834.
    Citations: 5     Fields:    Translation:Animals
  45. Bodamer OA, Scott CR, Giugliani R. Newborn Screening for Pompe Disease. Pediatrics. 2017 Jul; 140(Suppl 1):S4-S13. PMID: 29162673.
    Citations: 27     Fields:    Translation:HumansPHPublic Health
  46. Bodamer O, Scarpa M, Hung C, Pulles T, Giugliani R. Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS). Mol Genet Metab Rep. 2017 Jun; 11:62-64. PMID: 28516041; PMCID: PMC5426030.
    Citations: 3     
  47. Boy N, Heringer J, Brackmann R, Bodamer O, Seitz A, Kölker S, Harting I. 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. PMID: 28438223.
    Citations: 12     Fields:    Translation:Humans
  48. Peake RW, Bodamer OA. Dark Colored Urine in a 2-Year-Old Child. Clin Chem. 2017 03; 63(3):786-788. PMID: 28242834.
    Citations:    Fields:    Translation:Humans
  49. Sharer JD, Bodamer O, Longo N, Tortorelli S, Wamelink MM, Young S. 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. PMID: 28055022.
    Citations: 6     Fields:    Translation:Humans
  50. Peake RW, Bodamer OA. Newborn Screening for Lysosomal Storage Disorders. J Pediatr Genet. 2017 Mar; 6(1):51-60. PMID: 28180027; PMCID: PMC5288002.
    Citations: 11     
  51. 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
  52. Tuschl K, Meyer E, Valdivia LE, Zhao N, Dadswell C, Abdul-Sada A, Hung CY, Simpson MA, Chong WK, Jacques TS, Woltjer RL, Eaton S, Gregory A, Sanford L, Kara E, Houlden H, Cuno SM, Prokisch H, Valletta L, Tiranti V, Younis R, Maher ER, Spencer J, Straatman-Iwanowska A, Gissen P, Selim LA, Pintos-Morell G, Coroleu-Lletget W, Mohammad SS, Yoganathan S, Dale RC, Thomas M, Rihel J, Bodamer OA, Enns CA, Hayflick SJ, Clayton PT, Mills PB, Kurian MA, Wilson SW. Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. Nat Commun. 2016 05 27; 7:11601. PMID: 27231142; PMCID: PMC4894980.
    Citations: 98     Fields:    Translation:HumansAnimalsCells
  53. Li L, Paz AC, Wilky BA, Johnson B, Galoian K, Rosenberg A, Hu G, Tinoco G, Bodamer O, Trent JC. 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. PMID: 26368816.
    Citations: 46     Fields:    Translation:HumansCells
  54. 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 Mar; 89(3):359-66. PMID: 25959749; PMCID: PMC4760689.
    Citations: 15     Fields:    Translation:HumansAnimalsCells
  55. Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky MS, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AA, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. J Med Genet. 2015 Jun; 52(6):413-21. PMID: 25795793.
    Citations: 65     Fields:    Translation:HumansCells
  56. Johnson BA, Dajnoki A, Bodamer OA. Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I. Curr Protoc Hum Genet. 2015 Jan 20; 84:17.17.1-17.17.8. PMID: 25599668.
    Citations: 4     Fields:    Translation:HumansCellsPHPublic Health
  57. Tzakis AG, Nunnelley MJ, Tekin A, Buccini LD, Garcia J, Uchida K, Neville HL, Nares MA, Ruiz P, Bodamer O. Liver, pancreas and kidney transplantation for the treatment of Wolcott-Rallison syndrome. Am J Transplant. 2015 Feb; 15(2):565-7. PMID: 25384546.
    Citations: 12     Fields:    Translation:Humans
  58. Kingma SD, Bodamer OA, Wijburg FA. Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening. Best Pract Res Clin Endocrinol Metab. 2015 Mar; 29(2):145-57. PMID: 25987169.
    Citations: 39     Fields:    Translation:HumansPHPublic Health
  59. Auray-Blais C, Blais CM, Ramaswami U, Boutin M, Germain DP, Dyack S, Bodamer O, Pintos-Morell G, Clarke JT, Bichet DG, Warnock DG, Echevarria L, West ML, Lavoie P. Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry. Clin Chim Acta. 2015 Jan 01; 438:195-204. PMID: 25149322.
    Citations: 21     Fields:    Translation:Humans
  60. Bodamer OA, Giugliani R, Wood T. The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape. Mol Genet Metab. 2014 Sep-Oct; 113(1-2):34-41. PMID: 25127543.
    Citations: 5     Fields:    Translation:HumansPHPublic Health
  61. Johnson BA, Dajnoki A, Bodamer O. Diagnosis of lysosomal storage disorders: Gaucher disease. Curr Protoc Hum Genet. 2014 Jul 14; 82:17.15.1-17.15.6. PMID: 25042717.
    Citations: 2     Fields:    Translation:Humans
  62. Palmio J, Auranen M, Kiuru-Enari S, Löfberg M, Bodamer O, Udd B. Screening for late-onset Pompe disease in Finland. Neuromuscul Disord. 2014 Nov; 24(11):982-5. PMID: 25047669.
    Citations: 5     Fields:    Translation:HumansPHPublic Health
  63. Veerapen MK, Pelaez L, Potter JE, Duthely L, Birusingh R, Rampersaud E, Bodamer OA, Rodriguez MM. 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. PMID: 24833307.
    Citations: 1     Fields:    Translation:Humans
  64. Orenstein M, Barbouth D, Bodamer OA, Weinreb NJ. 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. PMID: 24685312.
    Citations: 4     Fields:    Translation:Humans
  65. Camp KM, Parisi MA, Acosta PB, Berry GT, Bilder DA, Blau N, Bodamer OA, Brosco JP, Brown CS, Burlina AB, Burton BK, Chang CS, Coates PM, Cunningham AC, Dobrowolski SF, Ferguson JH, Franklin TD, Frazier DM, Grange DK, Greene CL, Groft SC, Harding CO, Howell RR, Huntington KL, Hyatt-Knorr HD, Jevaji IP, Levy HL, Lichter-Konecki U, Lindegren ML, Lloyd-Puryear MA, Matalon K, MacDonald A, McPheeters ML, Mitchell JJ, Mofidi S, Moseley KD, Mueller CM, Mulberg AE, Nerurkar LS, Ogata BN, Pariser AR, Prasad S, Pridjian G, Rasmussen SA, Reddy UM, Rohr FJ, Singh RH, Sirrs SM, Stremer SE, Tagle DA, Thompson SM, Urv TK, Utz JR, van Spronsen F, Vockley J, Waisbren SE, Weglicki LS, White DA, Whitley CB, Wilfond BS, Yannicelli S, Young JM. Phenylketonuria Scientific Review Conference: state of the science and future research needs. Mol Genet Metab. 2014 Jun; 112(2):87-122. PMID: 24667081.
    Citations: 78     Fields:    Translation:Humans
  66. Tang M, Siddiqi A, Witt B, Yuzyuk T, Johnson B, Fraser N, Chen W, Rascon R, Yin X, Goli H, Bodamer OA, Lai K. 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. PMID: 24549051.
    Citations: 21     Fields:    Translation:Animals
  67. Vanderver A, Tonduti D, Kahn I, Schmidt J, Medne L, Vento J, Chapman KA, Lanpher B, Pearl P, Gropman A, Lourenco C, Bamforth JS, Sharpe C, Pineda M, Schallner J, Bodamer O, Orcesi S, Oberstein SA, Sistermans EA, Yntema HG, Bonnemann C, Waldman AT, van der Knaap MS. Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. Am J Med Genet A. 2014 Mar; 164A(3):627-33. PMID: 24375884.
    Citations: 31     Fields:    Translation:Humans
  68. Trakadis YJ, Alfares A, Bodamer OA, Buyukavci M, Christodoulou J, Connor P, Glamuzina E, Gonzalez-Fernandez F, Bibi H, Echenne B, Manoli I, Mitchell J, Nordwall M, Prasad C, Scaglia F, Schiff M, Schrewe B, Touati G, Tchan MC, Varet B, Venditti CP, Zafeiriou D, Rupar CA, Rosenblatt DS, Watkins D, Braverman N. Update on transcobalamin deficiency: clinical presentation, treatment and outcome. J Inherit Metab Dis. 2014 May; 37(3):461-73. PMID: 24305960.
    Citations: 15     Fields:    Translation:Humans
  69. Johnson BA, van Diggelen OP, Dajnoki A, Bodamer OA. Diagnosing lysosomal storage disorders: mucopolysaccharidosis type II. Curr Protoc Hum Genet. 2013 Oct 18; 79:17.14.1-17.14.9. PMID: 24510650.
    Citations: 3     Fields:    Translation:HumansCells
  70. Fan YS, Ouyang X, Peng J, Sacharow S, Tekin M, Barbouth D, Bodamer O, Yusupov R, Navarrete C, Heller AH, Pena SDj. 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. PMID: 24053112.
    Citations: 12     
  71. Johnson B, Mascher H, Mascher D, Legnini E, Hung CY, Dajnoki A, Chien YH, Maródi L, Hwu WL, Bodamer OA. Analysis of lyso-globotriaosylsphingosine in dried blood spots. Ann Lab Med. 2013 Jul; 33(4):274-8. PMID: 23826564.
    Citations: 10     Fields:    Translation:Humans
  72. Grünert SC, Müllerleile S, De Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer OA, Baumgartner MR, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann JB, Steinfeld R, Beblo S, Koch HG, Konstantopoulou V, Scholl-Bürgi S, van Teeffelen-Heithoff A, Suormala T, Sperl W, Kraus JP, Superti-Furga A, Schwab KO, Sass JO. Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. Orphanet J Rare Dis. 2013 Jan 10; 8:6. PMID: 23305374.
    Citations: 47     Fields:    Translation:Humans
  73. Bodamer OA, Johnson B, Dajnoki A. Diagnosing lysosomal storage disorders: Fabry disease. Curr Protoc Hum Genet. 2013; Chapter 17:Unit17.13. PMID: 23595598.
    Citations: 1     Fields:    Translation:HumansCellsPHPublic Health
  74. Chien YH, Bodamer OA, Chiang SC, Mascher H, Hung C, Hwu WL. 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. PMID: 23109060.
    Citations: 7     Fields:    Translation:Humans
  75. Bodamer OA, Dajnoki A. Diagnosing lysosomal storage disorders: Pompe disease. Curr Protoc Hum Genet. 2012 Oct; Chapter 17:Unit17.11. PMID: 23074069.
    Citations: 1     Fields:    Translation:HumansPHPublic Health
  76. Morava E, Vodopiutz J, Lefeber DJ, Janecke AR, Schmidt WM, Lechner S, Item CB, Sykut-Cegielska J, Adamowicz M, Wierzba J, Zhang ZH, Mihalek I, Stockler S, Bodamer OA, Lehle L, Wevers RA. Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations. Pediatrics. 2012 Oct; 130(4):e1034-9. PMID: 22966035.
    Citations: 16     Fields:    Translation:Humans
  77. Legnini E, Orsini JJ, Mühl A, Johnson B, Dajnoki A, Bodamer OA. Analysis of acid sphingomyelinase activity in dried blood spots using tandem mass spectrometry. Ann Lab Med. 2012 Sep; 32(5):319-23. PMID: 22950066.
    Citations: 6     Fields:    Translation:Humans
  78. de Ru MH, Teunissen QG, van der Lee JH, Beck M, Bodamer OA, Clarke LA, Hollak CE, Lin SP, Rojas MV, Pastores GM, Raiman JA, Scarpa M, Treacy EP, Tylki-Szymanska A, Wraith JE, Zeman J, Wijburg FA. Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure. Orphanet J Rare Dis. 2012 Apr 23; 7:22. PMID: 22524701.
    Citations: 10     Fields:    Translation:Humans
  79. Orsini JJ, Martin MM, Showers AL, Bodamer OA, Zhang XK, Gelb MH, Caggana M. 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. PMID: 22548856.
    Citations: 17     Fields:    Translation:HumansPHPublic Health
  80. Seidel MG, Rami B, Item C, Schober E, Zeitlhofer P, Huber WD, Heitger A, Bodamer OA, Haas OA. 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. PMID: 22450550.
    Citations: 4     Fields:    Translation:Humans
  81. Wittmann J, Karg E, Turi S, Legnini E, Wittmann G, Giese AK, Lukas J, Gölnitz U, Klingenhäger M, Bodamer O, Mühl A, Rolfs A. Newborn screening for lysosomal storage disorders in hungary. JIMD Rep. 2012; 6:117-25. PMID: 23430949.
    Citations: 28     
  82. Marquardt G, Currier R, McHugh DM, Gavrilov D, Magera MJ, Matern D, Oglesbee D, Raymond K, Rinaldo P, Smith EH, Tortorelli S, Turgeon CT, Lorey F, Wilcken B, Wiley V, Greed LC, Lewis B, Boemer F, Schoos R, Marie S, Vincent MF, Sica YC, Domingos MT, Al-Thihli K, Sinclair G, Al-Dirbashi OY, Chakraborty P, Dymerski M, Porter C, Manning A, Seashore MR, Quesada J, Reuben A, Chrastina P, Hornik P, Atef Mandour I, Atty Sharaf SA, Bodamer O, Dy B, Torres J, Zori R, Cheillan D, Vianey-Saban C, Ludvigson D, Stembridge A, Bonham J, Downing M, Dotsikas Y, Loukas YL, Papakonstantinou V, Zacharioudakis GS, Baráth Á, Karg E, Franzson L, Jonsson JJ, Breen NN, Lesko BG, Berberich SL, Turner K, Ruoppolo M, Scolamiero E, Antonozzi I, Carducci C, Caruso U, Cassanello M, la Marca G, Pasquini E, Di Gangi IM, Giordano G, Camilot M, Teofoli F, Manos SM, Peterson CK, Mayfield Gibson SK, Sevier DW, Lee SY, Park HD, Khneisser I, Browning P, Gulamali-Majid F, Watson MS, Eaton RB, Sahai I, Ruiz C, Torres R, Seeterlin MA, Stanley EL, Hietala A, McCann M, Campbell C, Hopkins PV, de Sain-Van der Velden MG, Elvers B, Morrissey MA, Sunny S, Knoll D, Webster D, Frazier DM, McClure JD, Sesser DE, Willis SA, Rocha H, Vilarinho L, John C, Lim J, Caldwell SG, Tomashitis K, Castiñeiras Ramos DE, Cocho de Juan JA, Rueda Fernández I, Yahyaoui Macías R, Egea-Mellado JM, González-Gallego I, Delgado Pecellin C, García-Valdecasas Bermejo MS, Chien YH, Hwu WL, Childs T, McKeever CD, Tanyalcin T, Abdulrahman M, Queijo C, Lemes A, Davis T, Hoffman W, Baker M, Hoffman GL. Enhanced interpretation of newborn screening results without analyte cutoff values. Genet Med. 2012 Jul; 14(7):648-55. PMID: 22766634.
    Citations: 36     Fields:    Translation:HumansPHPublic Health
  83. Wood T, Bodamer OA, Burin MG, D'Almeida V, Fietz M, Giugliani R, Hawley SM, Hendriksz CJ, Hwu WL, Ketteridge D, Lukacs Z, Mendelsohn NJ, Miller N, Pasquali M, Schenone A, Schoonderwoerd K, Winchester B, Harmatz P. Expert recommendations for the laboratory diagnosis of MPS VI. Mol Genet Metab. 2012 May; 106(1):73-82. PMID: 22405600.
    Citations: 17     Fields:    Translation:Humans
  84. Huemer M, Simma B, Mayr D, Möslinger D, Mühl A, Schmid I, Ulmer H, Bodamer OA. Free asymmetric dimethylarginine (ADMA) is low in children and adolescents with classical phenylketonuria (PKU). J Inherit Metab Dis. 2012 Sep; 35(5):817-21. PMID: 22290024.
    Citations: 8     Fields:    Translation:Humans
  85. Grünert SC, Müllerleile S, de Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer OA, Baumgartner MR, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann JB, Steinfeld R, Beblo S, Koch HG, Konstantopoulou V, Scholl-Bürgi S, van Teeffelen-Heithoff A, Suormala T, Sperl W, Kraus JP, Superti-Furga A, Schwab KO, Sass JO. Propionic acidemia: neonatal versus selective metabolic screening. J Inherit Metab Dis. 2012 Jan; 35(1):41-9. PMID: 22134541.
    Citations: 29     Fields:    Translation:HumansPHPublic Health
  86. Scarpa M, Almássy Z, Beck M, Bodamer O, Bruce IA, De Meirleir L, Guffon N, Guillén-Navarro E, Hensman P, Jones S, Kamin W, Kampmann C, Lampe C, Lavery CA, Teles EL, Link B, Lund AM, Malm G, Pitz S, Rothera M, Stewart C, Tylki-Szymanska A, van der Ploeg A, Walker R, Zeman J, Wraith JE. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis. 2011 Nov 07; 6:72. PMID: 22059643.
    Citations: 80     Fields:    Translation:Humans
  87. Muenzer J, Bodamer O, Burton B, Clarke L, Frenking GS, Giugliani R, Jones S, Rojas MV, Scarpa M, Beck M, Harmatz P. The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus. Eur J Pediatr. 2012 Jan; 171(1):181-8. PMID: 22037758.
    Citations: 38     Fields:    Translation:Humans
  88. Kraus JP, Spector E, Venezia S, Estes P, Chiang PW, Creadon-Swindell G, Müllerleile S, de Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer OA, Baumgartner MR, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann JB, Steinfeld R, Beblo S, Koch HG, Konstantopoulou V, Scholl-Bürgi S, van Teeffelen-Heithoff A, Suormala T, Ugarte M, Sperl W, Superti-Furga A, Schwab KO, Grünert SC, Sass JO. Mutation analysis in 54 propionic acidemia patients. J Inherit Metab Dis. 2012 Jan; 35(1):51-63. PMID: 22033733.
    Citations: 19     Fields:    Translation:HumansCells
  89. Guillard M, Morava E, de Ruijter J, Roscioli T, Penzien J, van den Heuvel L, Willemsen MA, de Brouwer A, Bodamer OA, Wevers RA, Lefeber DJ. B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement. J Pediatr. 2011 Dec; 159(6):1041-3.e2. PMID: 21920538.
    Citations: 5     Fields:    Translation:Humans
  90. Freilinger M, Dunkler D, Lanator I, Item CB, Mühl A, Fowler B, Bodamer OA. Effects of creatine supplementation in Rett syndrome: a randomized, placebo-controlled trial. J Dev Behav Pediatr. 2011 Jul-Aug; 32(6):454-60. PMID: 21654506.
    Citations: 8     Fields:    Translation:HumansCells
  91. Mayr JA, Bodamer O, Haack TB, Zimmermann FA, Madignier F, Prokisch H, Rauscher C, Koch J, Sperl W. Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. Mol Genet Metab. 2011 Aug; 103(4):358-61. PMID: 21596602.
    Citations: 5     Fields:    Translation:Humans
  92. Wang RY, Bodamer OA, Watson MS, Wilcox WR. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May; 13(5):457-84. PMID: 21502868.
    Citations: 66     Fields:    Translation:Humans
  93. Iqbal F, Item CB, Ratschmann R, Ali M, Plas E, Bodamer O. 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. PMID: 21190923.
    Citations: 2     Fields:    Translation:HumansCells
  94. Hughes DA, Al-Sayed M, Belmatoug N, Bodamer O, Böttcher T, Cappellini M, Cohen IJ, Eagleton T, Elstein D, Giraldo P, Jones S, Kaplinsky C, Lund A, Machaczka M, Mengel E, Pastores GM, Rosenbaum H, Sjo M, Tiling N, Tsaftaridis P, Zimran A, Weinreb N. Early access experience with VPRIV(®): recommendations for 'core data' collection. Blood Cells Mol Dis. 2011 Aug 15; 47(2):140-2. PMID: 21146428.
    Citations: 1     Fields:    Translation:HumansCells
  95. Mendelsohn NJ, Harmatz P, Bodamer O, Burton BK, Giugliani R, Jones SA, Lampe C, Malm G, Steiner RD, Parini R. 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. PMID: 21045710.
    Citations: 32     Fields:    Translation:Humans
  96. Huemer M, Simma B, Mayr D, Mühl A, Rami B, Schober E, Ulmer H, Zanier U, Bodamer OA. 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. PMID: 21074173.
    Citations: 8     Fields:    Translation:Humans
  97. Legnini E, Legini E, Orsini JJ, Hung C, Martin M, Showers A, Scarpa M, Zhang XK, Keutzer J, Mühl A, Bodamer OA. Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry. Clin Chim Acta. 2011 Jan 30; 412(3-4):343-6. PMID: 21070755.
    Citations: 4     Fields:    Translation:Humans
  98. Bodamer OA, Hung C. Laboratory and genetic evaluation of Gaucher disease. Wien Med Wochenschr. 2010 Dec; 160(23-24):600-4. PMID: 20714811.
    Citations: 7     Fields:    Translation:HumansCells
  99. Honzík T, Tesarová M, Mayr JA, Hansíková H, Jesina P, Bodamer O, Koch J, Magner M, Freisinger P, Huemer M, Kostková O, van Coster R, Kmoch S, Houstêk J, Sperl W, Zeman J. Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation. Arch Dis Child. 2010 Apr; 95(4):296-301. PMID: 20335238.
    Citations: 21     Fields:    Translation:Humans
  100. Dajnoki A, Fekete G, Keutzer J, Orsini JJ, De Jesus VR, Chien YH, Hwu WL, Lukacs Z, Mühl A, Zhang XK, Bodamer O. Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry. Clin Chim Acta. 2010 Oct 09; 411(19-20):1428-31. PMID: 20338160.
    Citations: 17     Fields:    Translation:HumansPHPublic Health
  101. Orsini JJ, Yeman J, Caggana M, Bodamer OA, Mühl A. 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. PMID: 20230811.
    Citations: 2     Fields:    Translation:HumansPHPublic Health
  102. Gruber S, Bogner W, Stadlbauer A, Krssak M, Bodamer O. Magnetic resonance spectroscopy in patients with Fabry and Gaucher disease. Eur J Radiol. 2011 Aug; 79(2):295-8. PMID: 20227208.
    Citations: 6     Fields:    Translation:Humans
  103. Hollak CE, Aerts JM, Belmatoug N, Bembi B, Bodamer O, Cappellini D, Collin-Histed T, Cox TM, Deegan P, Giraldo P, Hughes D, Lukina E, Manuel J, Michelakakis H, Di Rocco M, Vellodi A, Zimran A. 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. PMID: 20022271.
    Citations: 2     Fields:    Translation:Humans
  104. Ramsebner R, Ludwig M, Parzefall T, Lucas T, Baumgartner WD, Bodamer O, Cengiz FB, Schoefer C, Tekin M, Frei K. A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia. Laryngoscope. 2010 Feb; 120(2):359-64. PMID: 19950373.
    Citations: 6     Fields:    Translation:Humans
  105. Iqbal F, Item CB, Vilaseca MA, Jalan A, Mühl A, Couce ML, Duat A, Delgado MP, Bosch J, Puche A, Campistol J, Pineda M, Bodamer OA. 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. PMID: 20083419.
    Citations: 5     Fields:    Translation:HumansCells
  106. Kasper DC, Iqbal F, Dvorakova L, Zeman J, Magner M, Bodamer O, Pollak A, Herkner KR, Item CB. 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. PMID: 19954743.
    Citations: 1     Fields:    Translation:HumansCells
  107. Hörster F, Garbade SF, Zwickler T, Aydin HI, Bodamer OA, Burlina AB, Das AM, De Klerk JBC, Dionisi-Vici C, Geb S, Gökcay G, Guffon N, Maier EM, Morava E, Walter JH, Schwahn B, Wijburg FA, Lindner M, Grünewald S, Baumgartner MR, Kölker S. Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters. J Inherit Metab Dis. 2009 Oct; 32(5):630. PMID: 19642010.
    Citations: 31     Fields:    Translation:Humans
  108. Regelsberger G, Höftberger R, Pickl WF, Zlabinger GJ, Körmöczi U, Salzer-Muhar U, Luckner D, Bodamer OA, Mayr JA, Muss WH, Budka H, Bernheimer H. Danon disease: case report and detection of new mutation. J Inherit Metab Dis. 2009 Dec; 32 Suppl 1:S115-22. PMID: 19588270.
    Citations: 7     Fields:    Translation:HumansCells
  109. Ratschmann R, Minkov M, Kis A, Hung C, Rupar T, Mühl A, Fowler B, Nexo E, Bodamer OA. Transcobalamin II deficiency at birth. Mol Genet Metab. 2009 Nov; 98(3):285-8. PMID: 19581117.
    Citations: 15     Fields:    Translation:Humans
  110. Wurm M, Lubei V, Caronna M, Hermann M, Buttiglieri S, Bodamer O, Muehl A, Tetta C, Margreiter R, Hengster P. 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. PMID: 18847359.
    Citations: 1     Fields:    Translation:HumansCells
  111. Bodamer OA, Iqbal F, Mühl A, Hung C, Prayer D, Ratschmann R, Item BC. Low creatinine: the diagnostic clue for a treatable neurologic disorder. Neurology. 2009 Mar 03; 72(9):854-5. PMID: 19255414.
    Citations: 3     Fields:    Translation:Humans
  112. Mercimek-Mahmutoglu S, Muehl A, Salomons GS, Neophytou B, Moeslinger D, Struys E, Bodamer OA, Jakobs C, Stockler-Ipsiroglu S. 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. PMID: 19188083.
    Citations: 9     Fields:    Translation:Humans
  113. De Jesus VR, Zhang XK, Keutzer J, Bodamer OA, Mühl A, Orsini JJ, Caggana M, Vogt RF, Hannon WH. 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. PMID: 18988750.
    Citations: 49     Fields:    Translation:HumansPHPublic Health
  114. Dajnoki A, Mühl A, Fekete G, Keutzer J, Orsini J, Dejesus V, Zhang XK, Bodamer OA. Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry. Clin Chem. 2008 Oct; 54(10):1624-9. PMID: 18703766.
    Citations: 29     Fields:    Translation:HumansPHPublic Health
  115. Randall DR, Colobong KE, Hemmelgarn H, Sinclair GB, Hetty E, Thomas A, Bodamer OA, Volkmar B, Fernhoff PM, Casey R, Chan AK, Mitchell G, Stockler S, Melancon S, Rupar T, Clarke LA. Heparin cofactor II-thrombin complex: a biomarker of MPS disease. Mol Genet Metab. 2008 Aug; 94(4):456-461. PMID: 18511319.
    Citations: 24     Fields:    Translation:HumansAnimals
  116. Zwickler T, Lindner M, Aydin HI, Baumgartner MR, Bodamer OA, Burlina AB, Das AM, DeKlerk JB, Gökcay G, Grünewald S, Guffon N, Maier EM, Morava E, Geb S, Schwahn B, Walter JH, Wendel U, Wijburg FA, Müller E, Kölker S, Hörster F. 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. PMID: 18563634.
    Citations: 19     Fields:    Translation:Humans
  117. Vodopiutz J, Bodamer OA. Congenital disorders of glycosylation--a challenging group of IEMs. J Inherit Metab Dis. 2008 Apr; 31(2):267-9. PMID: 18392739.
    Citations: 6     Fields:    Translation:HumansAnimalsCells
  118. Wittmann G, Karg E, Mühl A, Bodamer OA, Túri S. Comparison of tetrahydrofuran and ethyl acetate as extraction solvents for urinary organic acid analysis. J Inherit Metab Dis. 2008 Feb; 31(1):73-80. PMID: 18188678.
    Citations: 2     Fields:    Translation:Humans
  119. Huemer M, Födinger M, Bodamer OA, Mühl A, Herle M, Weigmann C, Ulmer H, Stöckler-Ipsiroglu S, Möslinger D. Total homocysteine, B-vitamins and genetic polymorphisms in patients with classical phenylketonuria. Mol Genet Metab. 2008 May; 94(1):46-51. PMID: 18249021.
    Citations: 3     Fields:    Translation:Humans
  120. Bodamer OA. Newborn screening in Fabry disease: what can be achieved with early diagnosis? Clin Ther. 2008; 30 Suppl B:S41. PMID: 18395134.
    Citations: 1     Fields:    Translation:HumansPHPublic Health
  121. Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E, Cooper A, Cupler E, Deschauer M, Fumic K, Jackson M, Kishnani P, Lacerda L, Ledvinová J, Lugowska A, Lukacs Z, Maire I, Mandel H, Mengel E, Müller-Felber W, Piraud M, Reuser A, Rupar T, Sinigerska I, Szlago M, Verheijen F, van Diggelen OP, Wuyts B, Zakharova E, Keutzer J. 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. PMID: 18078773.
    Citations: 34     Fields:    Translation:Humans
  122. Wraith JE, Scarpa M, Beck M, Bodamer OA, De Meirleir L, Guffon N, Meldgaard Lund A, Malm G, Van der Ploeg AT, Zeman J. 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. PMID: 18038146.
    Citations: 155     Fields:    Translation:Humans
  123. Gruber S, Pinker K, Riederer F, Chmelík M, Stadlbauer A, Bittsanský M, Mlynárik V, Frey R, Serles W, Bodamer O, Moser E. 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. PMID: 17964104.
    Citations: 32     Fields:    Translation:Humans
  124. Tuschl K, Fritz B, Herle M, Fonatsch C, Bodamer OA. 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. PMID: 17676599.
    Citations: 3     Fields:    Translation:HumansCells
  125. Bodamer OA, Hoffmann GF, Lindner M. Expanded newborn screening in Europe 2007. J Inherit Metab Dis. 2007 Aug; 30(4):439-44. PMID: 17643197.
    Citations: 27     Fields:    Translation:HumansPHPublic Health
  126. Fischer S, Mann G, Konrad M, Metzler M, Ebetsberger G, Jones N, Nadel B, Bodamer O, Haas OA, Schmitt K, Panzer-Grümayer ER. 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. PMID: 17557895.
    Citations: 4     Fields:    Translation:HumansCells
  127. Item CB, Mihalek I, Lichtarge O, Jalan A, Vodopiutz J, Muhl A, Bodamer OA. Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III. Mol Genet Metab. 2007 Aug; 91(4):379-83. PMID: 17560158.
    Citations: 3     Fields:    Translation:HumansCells
  128. Vodopiutz J, Item CB, Häusler M, Korall H, Bodamer OA. Severe speech delay as the presenting symptom of guanidinoacetate methyltransferase deficiency. J Child Neurol. 2007 Jun; 22(6):773-4. PMID: 17641269.
    Citations: 3     Fields:    Translation:Humans
  129. Freilinger M, Kalisch D, Muehl A, Haas O, Moritz A, Bodamer O. Methylation status in females with rett syndrome. J Child Neurol. 2007 May; 22(5):635-8. PMID: 17690074.
    Citations: 1     Fields:    Translation:HumansCells
  130. Strnadová KA, Holub M, Mühl A, Heinze G, Ratschmann R, Mascher H, Stöckler-Ipsiroglu S, Waldhauser F, Votava F, Lebl J, Bodamer OA. Long-term stability of amino acids and acylcarnitines in dried blood spots. Clin Chem. 2007 Apr; 53(4):717-22. PMID: 17272485.
    Citations: 26     Fields:    Translation:HumansPHPublic Health
  131. Strnadová KA, Votava F, Lebl J, Mühl A, Item C, Bodamer OA, Torresani T, Bouska I, Waldhauser F, Sperl W. Prevalence of congenital adrenal hyperplasia among sudden infant death in the Czech Republic and Austria. Eur J Pediatr. 2007 Jan; 166(1):1-4. PMID: 17024350.
    Citations: 11     Fields:    Translation:HumansPHPublic Health
  132. Bodamer OA, Mitterer G, Maurer W, Pollak A, Mueller MW, Schmidt WM. Evidence for an association between mannose-binding lectin 2 (MBL2) gene polymorphisms and pre-term birth. Genet Med. 2006 Aug; 8(8):518-24. PMID: 16912583.
    Citations: 12     Fields:    Translation:HumansCells
  133. Holub M, Tuschl K, Ratschmann R, Strnadová KA, Mühl A, Heinze G, Sperl W, Bodamer OA. 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. PMID: 16797519.
    Citations: 26     Fields:    Translation:Humans
  134. Bodamer OA, Hussein K, Morris AA, Langhans CD, Rating D, Mayatepek E, Leonard JV. Glucose and leucine kinetics in idiopathic ketotic hypoglycaemia. Arch Dis Child. 2006 Jun; 91(6):483-6. PMID: 16443613; PMCID: PMC2082774.
    Citations: 9     Fields:    Translation:Humans
  135. Huemer M, Simma B, Fowler B, Suormala T, Bodamer OA, Sass JO. Prenatal and postnatal treatment in cobalamin C defect. J Pediatr. 2005 Oct; 147(4):469-72. PMID: 16227032.
    Citations: 13     Fields:    Translation:Humans
  136. Item CB, Stöckler-Ipsiroglu S, Willheim C, Mühl A, Bodamer OA. 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. PMID: 16054853.
    Citations:    Fields:    Translation:Cells
  137. Holub M, Potocki L, Bodamer OA. Central nervous system malformations in oral-facial-digital syndrome, type 1. Am J Med Genet A. 2005 Jul 15; 136(2):218. PMID: 15942947.
    Citations: 5     Fields:    Translation:Humans
  138. Külkens S, Harting I, Sauer S, Zschocke J, Hoffmann GF, Gruber S, Bodamer OA, Kölker S. Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency. Neurology. 2005 Jun 28; 64(12):2142-4. PMID: 15985591.
    Citations: 31     Fields:    Translation:HumansCells
  139. Tuschl K, Gal A, Paschke E, Kircher S, Bodamer OA. Mucopolysaccharidosis type II in females: case report and review of literature. Pediatr Neurol. 2005 Apr; 32(4):270-2. PMID: 15797184.
    Citations: 39     Fields:    Translation:HumansCells
  140. Bodamer OA, Sahoo T, Beaudet AL, O'Brien WE, Bottiglieri T, Stöckler-Ipsiroglu S, Wagner C, Scaglia F. Creatine metabolism in combined methylmalonic aciduria and homocystinuria. Ann Neurol. 2005 Apr; 57(4):557-60. PMID: 15786446.
    Citations: 7     Fields:    Translation:Humans
  141. Tuschl K, Bodamer OA, Erwa W, Mühl A. Rapid analysis of total plasma homocysteine by tandem mass spectrometry. Clin Chim Acta. 2005 Jan; 351(1-2):139-41. PMID: 15563882.
    Citations: 3     Fields:    Translation:Humans
  142. Holub M, Bodamer OA, Item C, Mühl A, Pollak A, Stöckler-Ipsiroglu S. 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. PMID: 15858960.
    Citations: 2     Fields:    Translation:Humans
  143. Mitterer G, Bodamer O, Harwanegg C, Maurer W, Mueller MW, Schmidt WM. Microarray-based detection of mannose-binding lectin 2 (MBL2) polymorphisms in a routine clinical setting. Genet Test. 2005; 9(1):6-13. PMID: 15857180.
    Citations: 1     Fields:    Translation:HumansCells
  144. Stromberger C, Bodamer OA. Fabry disease defined. Eur J Clin Invest. 2004 Jun; 34(6):449; author reply 450. PMID: 15200498.
    Citations:    Fields:    Translation:Humans
  145. Bodamer OA, Ratschmann R, Paschke E, Voigtländer T, Stöckler-Ipsiroglu S. Recurrent acroparaesthesia during febrile infections. Lancet. 2004 May 22; 363(9422):1698. PMID: 15158631.
    Citations: 3     Fields:    Translation:Humans
  146. Item CB, Mercimek-Mahmutoglu S, Battini R, Edlinger-Horvat C, Stromberger C, Bodamer O, Mühl A, Vilaseca MA, Korall H, Stöckler-Ipsiroglu S. Characterization of seven novel mutations in seven patients with GAMT deficiency. Hum Mutat. 2004 May; 23(5):524. PMID: 15108290.
    Citations: 6     Fields:    Translation:Humans
  147. Hussain K, Bodamer OA, Cameron FJ, Camacho-Hubner C, Soos MA, Jones J, Krywawych S, O'Rahilly S, Aynsley-Green A. Hypoketotic hypofattyacidaemic hypoinsulinaemic hypoglycaemia in a child with hemihypertrophy? A new syndrome. Horm Res. 2004; 61(5):222-7. PMID: 14764948.
    Citations: 4     Fields:    Translation:HumansCells
  148. Bodamer OA, Gruber S, Stöckler-Ipsiroglu S. Nuclear magnetic resonance spectroscopy in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2004; 27(6):877-83. PMID: 15505395.
    Citations: 5     Fields:    Translation:Humans
  149. Crone J, Möslinger D, Bodamer OA, Schima W, Huber WD, Holme E, Stöckler Ipsiroglu S. Reversibility of cirrhotic regenerative liver nodules upon NTBC treatment in a child with tyrosinaemia type I. Acta Paediatr. 2003 May; 92(5):625-8. PMID: 12839296.
    Citations: 8     Fields:    Translation:Humans
  150. Stromberger C, Bodamer OA, Stöckler-Ipsiroglu S. Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism. J Inherit Metab Dis. 2003; 26(2-3):299-308. PMID: 12889668.
    Citations: 25     Fields:    Translation:Humans
  151. Orendác M, Zeman J, Stabler SP, Allen RH, Kraus JP, Bodamer O, Stöckler-Ipsiroglu S, Kvasnicka J, Kozich V. Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy. J Inherit Metab Dis. 2003; 26(8):761-73. PMID: 14739681.
    Citations: 11     Fields:    Translation:Humans
  152. Bodamer OA, Bercovich D, Schlabach M, Ballantyne C, Zoch D, Beaudet AL. Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia. Clin Chem. 2002 Nov; 48(11):1913-8. PMID: 12406975.
    Citations: 4     Fields:    Translation:HumansCells
  153. Bodamer OA, Feillet F, Lane RE, Lee PJ, Dixon MA, Halliday D, Leonard JV. Utilization of cornstarch in glycogen storage disease type Ia. Eur J Gastroenterol Hepatol. 2002 Nov; 14(11):1251-6. PMID: 12439121.
    Citations: 7     Fields:    Translation:Humans
  154. Bodamer OA, Haas D, Hermans MM, Reuser AJ, Hoffmann GF. L-alanine supplementation in late infantile glycogen storage disease type II. Pediatr Neurol. 2002 Aug; 27(2):145-6. PMID: 12213618.
    Citations: 8     Fields:    Translation:Humans
  155. Bodamer OA, Church HJ, Cooper A, Wraith JE, Scott CR, Scaglia F. 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. PMID: 11992489.
    Citations: 2     Fields:    Translation:Humans
  156. Berend SA, Bodamer OA, Shapira SK, Shaffer LG, Bacino CA. Familial complex chromosomal rearrangement resulting in a recombinant chromosome. Am J Med Genet. 2002 May 15; 109(4):311-7. PMID: 11992486.
    Citations: 5     Fields:    Translation:HumansCells
  157. Smith DL, Bodamer OA. Practical management of combined methylmalonicaciduria and homocystinuria. J Child Neurol. 2002 May; 17(5):353-6. PMID: 12150582.
    Citations: 5     Fields:    Translation:Humans
  158. Item CB, Stromberger C, Mühl A, Edlinger C, Bodamer OA, Schulze A, Surtees R, Leuzzi V, Salomons GS, Jakobs C, Stöckler-Ipsiroglu S. Denaturing gradient gel electrophoresis for the molecular characterization of six patients with guanidinoacetate methyltransferase deficiency. Clin Chem. 2002 May; 48(5):767-9. PMID: 11978605.
    Citations: 1     Fields:    Translation:Humans
  159. Bodamer OA, Bravermann RM, Craigen WJ. Multiple fractures in a 3-month-old infant with severe infantile osteopetrosis. J Paediatr Child Health. 2001 Oct; 37(5):520-2. PMID: 11885723.
    Citations: 1     Fields:    Translation:Humans
  160. Bodamer OA, Bloesch SM, Gregg AR, Stockler-Ipsiroglu S, O'Brien WE. Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry. Clin Chim Acta. 2001 Jun; 308(1-2):173-8. PMID: 11412830.
    Citations: 15     Fields:    Translation:HumansPHPublic Health
  161. Bodamer OA, Halliday D. Uses of stable isotopes in clinical diagnosis and research in the paediatric population. Arch Dis Child. 2001 May; 84(5):444-8. PMID: 11316697; PMCID: PMC1718760.
    Citations: 10     Fields:    Translation:Humans
  162. Bodamer OA, Rosenblatt DS, Appel SH, Beaudet AL. Adult-onset combined methylmalonic aciduria and homocystinuria (cblC). Neurology. 2001 Apr 24; 56(8):1113. PMID: 11320193.
    Citations: 19     Fields:    Translation:Humans
  163. Bodamer OA, Popek EJ, Bacino C. Atypical presentation of amniotic band sequence. Am J Med Genet. 2001 Apr 22; 100(2):100-2. PMID: 11298368.
    Citations: 1     Fields:    Translation:Humans
  164. Bodamer O. Subdural hematomas and glutaric aciduria type I. Pediatrics. 2001 Feb; 107(2):451. PMID: 11246642.
    Citations:    Fields:    Translation:Humans
  165. Scaglia F, Sutton VR, Bodamer OA, Vogel H, Shapira SK, Naviaux RK, Vladutiu GD. Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria. J Child Neurol. 2001 Feb; 16(2):136-8. PMID: 11292221.
    Citations: 8     Fields:    Translation:Humans
  166. Bodamer OA, Halliday D, Leonard JV. The effects of l-alanine supplementation in late-onset glycogen storage disease type II. Neurology. 2000 Sep 12; 55(5):710-2. PMID: 10980742.
    Citations: 7     Fields:    Translation:Humans
  167. Kingdon CC, Mitchell F, Bodamer OA, Williams AF. Measurement of carbon dioxide production in very low birth weight babies. Arch Dis Child Fetal Neonatal Ed. 2000 Jul; 83(1):F50-5. PMID: 10873173; PMCID: PMC1721102.
    Citations: 2     Fields:    Translation:Humans
  168. Feillet F, Bodamer OA, Dixon MA, Sequeira S, Leonard JV. Resting energy expenditure in disorders of propionate metabolism. J Pediatr. 2000 May; 136(5):659-63. PMID: 10802500.
    Citations: 13     Fields:    Translation:Humans
  169. Scaglia F, Bodamer OA, Berend SA, Adam LR, Shaffer LG. Deletion (9) (p13.1 p21.1). Am J Med Genet. 2000 Mar 13; 91(2):113-5. PMID: 10748408.
    Citations:    Fields:    Translation:HumansCells
  170. Estrov Y, Scaglia F, Bodamer OA. Psychiatric symptoms of inherited metabolic disease. J Inherit Metab Dis. 2000 Feb; 23(1):2-6. PMID: 10682302.
    Citations: 10     Fields:    Translation:Humans
  171. Bodamer OA, Vellodi A. Protein, glucose and energy metabolism in Gaucher disease type I. J Inherit Metab Dis. 2000 Feb; 23(1):86-7. PMID: 10682313.
    Citations:    Fields:    Translation:Humans
  172. Bodamer OA, Scaglia F. Sublingual therapy for cobalamin deficiency. Lancet. 1999 Oct 30; 354(9189):1562. PMID: 10551533.
    Citations:    Fields:    Translation:Humans
  173. Bodamer OA, Craigen WJ. Importance of measuring plasma cholesterol precursors. Am J Med Genet. 1999 Jan 15; 82(2):199. PMID: 9934989.
    Citations:    Fields:    Translation:Humans
  174. Feillet F, Bodamer OA, Leonard JV. Increased resting energy expenditure in glycogen storage disease type Ia. J Inherit Metab Dis. 1998 Feb; 21(1):80-1. PMID: 9501276.
    Citations: 1     Fields:    Translation:Humans
  175. Bordin P, Bodamer OA, Venkatesan S, Gray RM, Bannister PA, Halliday D. 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. PMID: 9505154.
    Citations: 13     Fields:    Translation:Humans
  176. Bodamer OA, Mayatepek E, Leonard JV. Leucine and glucose kinetics in glycogen storage disease type IIIa. J Inherit Metab Dis. 1997 Nov; 20(6):847. PMID: 9427162.
    Citations: 2     Fields:    Translation:Humans
  177. Bodamer OA, Hoffmann GF, Visser GH, Janecke A, Linderkamp O, Leonard JV, Fasoli L, Rating D. Assessment of energy expenditure in metabolic disorders. Eur J Pediatr. 1997 Aug; 156 Suppl 1:S24-8. PMID: 9266211.
    Citations: 6     Fields:    Translation:Humans
  178. Bodamer OA, Leonard JV, Halliday D. Dietary treatment in late-onset acid maltase deficiency. Eur J Pediatr. 1997 Aug; 156 Suppl 1:S39-42. PMID: 9266214.
    Citations: 6     Fields:    Translation:Humans
  179. Leonard JV, Bodamer OA. Stable isotope studies in inborn errors of metabolism--implications and conclusions. Eur J Pediatr. 1997 Aug; 156 Suppl 1:S88-9. PMID: 9266224.
    Citations:    Fields:    Translation:HumansCells
  180. Halliday D, Bodamer OA. Measurement of glucose turnover--implications for the study of inborn errors of metabolism. Eur J Pediatr. 1997 Aug; 156 Suppl 1:S35-8. PMID: 9266213.
    Citations:    Fields:    Translation:HumansCells
  181. Bodamer OA, Leonard JV, Tasker RC, Hoffmann GF, Halliday D. Protein turnover in critically ill children. Eur J Pediatr. 1997 Aug; 156 Suppl 1:S59-61. PMID: 9266217.
    Citations: 1     Fields:    Translation:Humans
  182. Bodamer OA, Leonard JV, Lane RE. H2-breath tests--importance of adequate storage of breath samples. J Pediatr Gastroenterol Nutr. 1997 Apr; 24(4):450-1. PMID: 9144133.
    Citations:    Fields:    Translation:Humans
  183. Bodamer OA. Medicine in Germany. Lancet. 1997 Feb 15; 349(9050):508. PMID: 9040607.
    Citations:    Fields:    Translation:Humans
  184. Bodamer OA, Leonard JV, Halliday D. Intermittent maple syrup disease. Lancet. 1996 Jan 20; 347(8995):191-2. PMID: 8544561.
    Citations: 2     Fields:    Translation:HumansCells
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