Olaf Bodamer MD PhD

Olaf Bodamer, MD, PhD, FACMG, FAAP

Park Gerald Chair in Genetics & Genomics; Associate Chief of Genetics & Genomics

Associate Professor, Harvard Medical School

    Contact: 857-218-5544
  • Fax: 617-730-0466

Medical Services


  • Clinical Genetics
  • Biochemical Genetics


  • Genetics and Genomics


  • English
  • German
To schedule an appointment: Call 857-218-5544 or Request an Appointment
Olaf Bodamer MD PhD

Philosophy of Care 

Dr. Bodamer serves as an expert for the Division of Genetics and Genomics for Boston Children’s Hospital's Precision Medicine Service. For more information about the Precision Medicine Service please visit www.precisionmedicine.childrenshospital.org.

Experience and Education


Medical School

Medical School Heidelberg, 1989

Heidelberg, Germany


Great Ormond Street Hospital for Children, 1994-1997

London, UK

Postdoctoral Fellowship

Baylor College of Medicine, 1997-2001

Houston, TX


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

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

Professional History

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. Over a ten-year period I have provided visionary leadership to the Division of Pediatric Genetics at the University of Vienna Medical School and to the Austrian Newborn Screening Program and established the Division of Clinical and Translational Genetics and the Genetics Diagnostic Laboratories at the University of Miami.


Olaf Bodamer MD, PhD Research Profile

My research focuses on the dynamic integration and application of multiple “OMICS” (genome, transcriptome, methylome, metabolome, microbiome) to different disease and health states including selected orphan diseases, premature birth and pregnancy. Using a systems biology approach the research aims to identify factors that critically impact phenotypic severity and variability while being amenable to therapeutic interventions.


Publications powered by Harvard Catalyst Profiles
  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(12):e0189324.
  2. 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).
  3. 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.
  4. Bodamer OA, Scott CR, Giugliani R. Newborn Screening for Pompe Disease. Pediatrics. 2017 Jul; 140(Suppl 1):S4-S13.
  5. 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.
  6. 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 Apr 24; 12(1):77.
  7. Peake RW, Bodamer OA. Dark Colored Urine in a 2-Year-Old Child. Clin Chem. 2017 Mar; 63(3):786-788.
  8. 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 Feb; 19(2):256-263.
  9. Peake RW, Bodamer OA. Newborn Screening for Lysosomal Storage Disorders. J Pediatr Genet. 2017 Mar; 6(1):51-60.
  10. Peake RW, Marsden DL, Bodamer OA, Gelb MH, Millington DS, Wijburg F. Newborn Screening for Lysosomal Storage Disorders: Quo Vadis? Clin Chem. 2016 Nov; 62(11):1430-1438.
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  12. 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 May 27; 7:11601.
  13. 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.
  14. 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.
  15. 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.
  16. Johnson BA, Dajnoki A, Bodamer OA. Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I. Curr Protoc Hum Genet. 2015 Jan 20; 84:17.17.1-8.
  17. 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.
  18. 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.
  19. 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.
  20. 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.
  21. Johnson BA, Dajnoki A, Bodamer O. Diagnosis of lysosomal storage disorders: Gaucher disease. Curr Protoc Hum Genet. 2014 Jul 14; 82:17.15.1-6.
  22. 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.
  23. 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.
  24. 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.
  25. 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.
  26. 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.
  27. 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.
  28. 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.
  29. Johnson BA, van Diggelen OP, Dajnoki A, Bodamer OA. Diagnosing lysosomal storage disorders: mucopolysaccharidosis type II. Curr Protoc Hum Genet. 2013 Oct 18; 79:Unit 17.14..
  30. 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.
  31. 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.
  32. 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.
  33. Bodamer OA, Johnson B, Dajnoki A. Diagnosing lysosomal storage disorders: Fabry disease. Curr Protoc Hum Genet. 2013; Chapter 17:Unit17.13.
  34. 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&gtA mutation. J Inherit Metab Dis. 2013 Sep; 36(5):881-5.
  35. Bodamer OA, Dajnoki A. Diagnosing lysosomal storage disorders: Pompe disease. Curr Protoc Hum Genet. 2012 Oct; Chapter 17:Unit17.11.
  36. 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.
  37. 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.
  38. 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.
  39. 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.
  40. 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.
  41. 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.
  42. 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.
  43. 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.
  44. 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.
  45. 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.
  46. 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.
  47. 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.
  48. 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.
  49. 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.
  50. 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.
  51. 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.
  52. 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.
  53. 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.
  54. 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.
  55. 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.
  56. 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.
  57. 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.
  58. Bodamer OA, Hung C. Laboratory and genetic evaluation of Gaucher disease. Wien Med Wochenschr. 2010 Dec; 160(23-24):600-4.
  59. 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.
  60. 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.
  61. 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.
  62. 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.
  63. 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.
  64. 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.
  65. 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.
  66. 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.
  67. 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.
  68. 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.
  69. 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.
  70. 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.
  71. 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.
  72. 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.
  73. 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.
  74. 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.
  75. 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):456-61.
  76. 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.
  77. Vodopiutz J, Bodamer OA. Congenital disorders of glycosylation--a challenging group of IEMs. J Inherit Metab Dis. 2008 Apr; 31(2):267-9.
  78. 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.
  79. 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.
  80. Bodamer OA. Newborn screening in Fabry disease: what can be achieved with early diagnosis? Clin Ther. 2008; 30 Suppl B:S41.
  81. 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.
  82. 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.
  83. 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.
  84. 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.
  85. Bodamer OA, Hoffmann GF, Lindner M. Expanded newborn screening in Europe 2007. J Inherit Metab Dis. 2007 Aug; 30(4):439-44.
  86. 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.
  87. 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.
  88. 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.
  89. 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.
  90. 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.
  91. 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.
  92. 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.
  93. 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.
  94. 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.
  95. 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.
  96. 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.
  97. 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.
  98. 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.
  99. 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.
  100. 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.
  101. 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.
  102. 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.
  103. 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.
  104. Stromberger C, Bodamer OA. Fabry disease defined. Eur J Clin Invest. 2004 Jun; 34(6):449; author reply 450.
  105. Bodamer OA, Ratschmann R, Paschke E, Voigtländer T, Stöckler-Ipsiroglu S. Recurrent acroparaesthesia during febrile infections. Lancet. 2004 May 22; 363(9422):1698.
  106. 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.
  107. 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.
  108. 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.
  109. 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.
  110. 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.
  111. 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.
  112. 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.
  113. 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.
  114. 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.
  115. 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.
  116. 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.
  117. 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.
  118. Smith DL, Bodamer OA. Practical management of combined methylmalonicaciduria and homocystinuria. J Child Neurol. 2002 May; 17(5):353-6.
  119. 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.
  120. 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.
  121. 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.
  122. Bodamer OA, Rosenblatt DS, Appel SH, Beaudet AL. Adult-onset combined methylmalonic aciduria and homocystinuria (cblC). Neurology. 2001 Apr 24; 56(8):1113.
  123. Bodamer OA, Popek EJ, Bacino C. Atypical presentation of amniotic band sequence. Am J Med Genet. 2001 Apr 22; 100(2):100-2.
  124. 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.
  125. Bodamer O. Subdural hematomas and glutaric aciduria type I. Pediatrics. 2001 Feb; 107(2):451.
  126. 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.
  127. 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.
  128. 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.
  129. 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.
  130. Bodamer OA, Vellodi A. Protein, glucose and energy metabolism in Gaucher disease type I. J Inherit Metab Dis. 2000 Feb; 23(1):86-7.
  131. Estrov Y, Scaglia F, Bodamer OA. Psychiatric symptoms of inherited metabolic disease. J Inherit Metab Dis. 2000 Feb; 23(1):2-6.
  132. Bodamer OA, Scaglia F. Sublingual therapy for cobalamin deficiency. Lancet. 1999 Oct 30; 354(9189):1562.
  133. Bodamer OA, Craigen WJ. Importance of measuring plasma cholesterol precursors. Am J Med Genet. 1999 Jan 15; 82(2):199.
  134. 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.
  135. 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.
  136. 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.
  137. Bodamer OA, Leonard JV, Halliday D. Dietary treatment in late-onset acid maltase deficiency. Eur J Pediatr. 1997 Aug; 156 Suppl 1:S39-42.
  138. 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.
  139. 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.
  140. 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.
  141. 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.
  142. 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.
  143. Bodamer OA. Medicine in Germany. Lancet. 1997 Feb 15; 349(9050):508.
  144. Bodamer OA, Leonard JV, Halliday D. Intermittent maple syrup disease. Lancet. 1996 Jan 20; 347(8995):191-2.
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