Olaf A Bodamer

Olaf A Bodamer

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Olaf A Bodamer

Olaf A Bodamer

Publications by authors named "Olaf A Bodamer"

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58Publications

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A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure.

PLoS One 2017 11;12(12):e0189324. Epub 2017 Dec 11.

Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, United States of America.

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January 2018

Newborn Screening for Pompe Disease.

Pediatrics 2017 Jul;140(Suppl 1):S4-S13

Medical Genetics Service, Hospital de Clinicas de Porto Alegre (HCPA) and Department of Genetics, Federal University of Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.

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July 2017

Newborn Screening for Lysosomal Storage Disorders.

J Pediatr Genet 2017 Mar 2;6(1):51-60. Epub 2016 Dec 2.

Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts, United States; Harvard Medical School, Boston, Massachusetts, United States.

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March 2017

Dark Colored Urine in a 2-Year-Old Child.

Clin Chem 2017 Mar;63(3):786-788

Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA.

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March 2017

Newborn Screening for Lysosomal Storage Disorders: Quo Vadis?

Clin Chem 2016 11 14;62(11):1430-1438. Epub 2016 Sep 14.

Head of the Division of Metabolic Diseases, Academic Medical Centre, Emma Children's Hospital, University of Amsterdam, Amsterdam, The Netherlands.

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November 2016

The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape.

Mol Genet Metab 2014 Sep-Oct;113(1-2):34-41. Epub 2014 Jul 16.

Metabolic Laboratory, Greenwood Genetic Center, Greenwood, SC, USA. Electronic address:

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June 2015

Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening.

Best Pract Res Clin Endocrinol Metab 2015 Mar 26;29(2):145-57. Epub 2014 Aug 26.

Department of Pediatrics and Amsterdam Lysosome Center 'Sphinx', Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. Electronic address:

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March 2015

Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I.

Curr Protoc Hum Genet 2015 Jan 20;84:17.17.1-8. Epub 2015 Jan 20.

Division of Clinical and Translational Genetics, Dr. John T. MacDonald Foundation, Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida.

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January 2015

Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model.

Eur J Hum Genet 2014 Oct 19;22(10):1172-9. Epub 2014 Feb 19.

Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.

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October 2014

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. Epub 2014 Mar 31.

Dr John T, Macdonald Foundation Department of Human Genetics, Miller School of Medicine, Miami, FL, USA.

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March 2014

Diagnosing lysosomal storage disorders: mucopolysaccharidosis type II.

Curr Protoc Hum Genet 2013 Oct 18;79:Unit 17.14.. Epub 2013 Oct 18.

Division of Clinical and Translational Genetics, Dr. John T. MacDonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida.

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October 2013

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 30;36(5):881-5. Epub 2012 Oct 30.

Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.

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September 2013

Analysis of lyso-globotriaosylsphingosine in dried blood spots.

Ann Lab Med 2013 Jul 24;33(4):274-8. Epub 2013 Jun 24.

Division of Clinical and Translational Genetics, Department of Human Genetics, University of Miami-Miller School of Medicine, 1501 NW 10th Ave, Miami, FL 33136, USA.

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July 2013

Diagnosing lysosomal storage disorders: Fabry disease.

Curr Protoc Hum Genet 2013 ;Chapter 17:Unit17.13

Division of Clinical and Translational Genetics, Dr. John T. MacDonald Foundation, Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.

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June 2013

Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.

Pediatrics 2012 Oct 10;130(4):e1034-9. Epub 2012 Sep 10.

Department of Pediatrics at the Institute for Genetic and Metabolic Diseases, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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October 2012

Diagnosing lysosomal storage disorders: Pompe disease.

Curr Protoc Hum Genet 2012 Oct;Chapter 17:Unit17.11

Division of Clinical and Translational Genetics, Dr. John T. MacDonald Foundation, Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.

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October 2012

Analysis of acid sphingomyelinase activity in dried blood spots using tandem mass spectrometry.

Ann Lab Med 2012 Sep 13;32(5):319-23. Epub 2012 Aug 13.

Women's and Children's Health Department, University of Padua, Italy.

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September 2012

B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement.

J Pediatr 2011 Dec 13;159(6):1041-3.e2. Epub 2011 Sep 13.

Department of Laboratory Medicine, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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December 2011

Effects of creatine supplementation in Rett syndrome: a randomized, placebo-controlled trial.

J Dev Behav Pediatr 2011 Jul-Aug;32(6):454-60

Department of Pediatric and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.

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November 2011

Low levels of asymmetric dimethylarginine in children with diabetes mellitus type I compared with healthy children.

J Pediatr 2011 Apr 12;158(4):602-606.e1. Epub 2010 Nov 12.

Department of Pediatrics, Landeskrankenhaus Bregenz, Bregenz, Austria.

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April 2011

Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry.

Clin Chim Acta 2011 Jan 9;412(3-4):343-6. Epub 2010 Nov 9.

Department of Pediatrics, University Children's Hospital, University of Padua, Italy.

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January 2011

Laboratory and genetic evaluation of Gaucher disease.

Wien Med Wochenschr 2010 Dec 16;160(23-24):600-4. Epub 2010 Aug 16.

University Children's Hospital Salzburg and Institute of Inherited Metabolic Diseases, Paracelsus Private Medical University, Salzburg, Austria.

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December 2010

The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC).

Mol Genet Metab 2010 May 4;100(1):42-5. Epub 2010 Jan 4.

Department of Pediatrics and Adolescent Medicine, Laboratory for Inherited Metabolic Disorders, Medical University of Vienna, Austria.

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May 2010

Transcobalamin II deficiency at birth.

Mol Genet Metab 2009 Nov 6;98(3):285-8. Epub 2009 Jun 6.

Department of General Paediatrics and Neonatology, University Children's Hospital, Vienna, Austria.

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November 2009

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 1;96(4):273-5. Epub 2009 Feb 1.

Department of Pediatrics, Division of Biochemical Diseases, British Columbia Children's Hospital, University of British Columbia, 4480 Oak Street, Vancouver, BC, Canada V6H 3V4.

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April 2009

Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders.

Clin Chem 2009 Jan 6;55(1):158-64. Epub 2008 Nov 6.

Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA.

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January 2009

Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry.

Clin Chem 2008 Oct 14;54(10):1624-9. Epub 2008 Aug 14.

Division of Biochemical and Paediatric Genetics, University Children's Hospital Vienna, Austria.

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October 2008

Newborn screening in Fabry disease: what can be achieved with early diagnosis?

Authors:
Olaf A Bodamer

Clin Ther 2008 ;30 Suppl B:S41

Division of Biochemical Genetics, University Children's Hospital, Währinger Gürtel 18-20, Vienna, Austria.

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September 2008

Heparin cofactor II-thrombin complex: a biomarker of MPS disease.

Mol Genet Metab 2008 Aug 3;94(4):456-61. Epub 2008 Jun 3.

Department of Medical Genetics, University of British Columbia, 4500 Oak Street, Room C234, Vancouver, BC, Canada V6H3N1.

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August 2008

Total homocysteine, B-vitamins and genetic polymorphisms in patients with classical phenylketonuria.

Mol Genet Metab 2008 May 14;94(1):46-51. Epub 2008 Jan 14.

Department of Pediatrics, Landeskrankenhaus (LKH) Bregenz, Carl Pedenz Str. 2, 6900 Bregenz, Austria.

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May 2008

Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy.

Eur J Pediatr 2008 Mar 23;167(3):267-77. Epub 2007 Nov 23.

Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Hospital Road, Manchester M27 4HA, UK.

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March 2008

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;143A(17):2065-9

Biochemical and Paediatric Genetics, Department of General Paediatrics, University Children's Hospital, Medical University Vienna, Vienna, Austria.

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September 2007

Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III.

Mol Genet Metab 2007 Aug 7;91(4):379-83. Epub 2007 Jun 7.

Division of Biochemical and Paediatric Genetics, University Children's Hospital, Währinger Gürtel 18-20, A-1090 Vienna, Austria.

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August 2007

Long-term stability of amino acids and acylcarnitines in dried blood spots.

Clin Chem 2007 Apr 1;53(4):717-22. Epub 2007 Feb 1.

Department of Paediatrics, 3rd Faculty of Medicine, Charles University, Prague, Czech Republic.

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April 2007

Prevalence of congenital adrenal hyperplasia among sudden infant death in the Czech Republic and Austria.

Eur J Pediatr 2007 Jan 22;166(1):1-4. Epub 2006 Sep 22.

Department of Pediatrics, 3rd Faculty of Medicine, Charles University, CZ-100 81, Prague, Czech Republic.

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January 2007

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 22;373(1-2):27-31. Epub 2006 Jun 22.

Department of General Paediatrics, University of Vienna, Währinger Gürtel 18-20, A-1090 Vienna, Austria.

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November 2006

Evidence for an association between mannose-binding lectin 2 (MBL2) gene polymorphisms and pre-term birth.

Genet Med 2006 Aug;8(8):518-24

Department of General Pediatrics, University Children's Hospital, Medical University of Vienna, Austria.

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August 2006

Prenatal and postnatal treatment in cobalamin C defect.

J Pediatr 2005 Oct;147(4):469-72

Department of Pediatrics, Landeskrankenhaus, Feldkirch, Austria.

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October 2005

Creatine metabolism in combined methylmalonic aciduria and homocystinuria.

Ann Neurol 2005 Apr;57(4):557-60

Unit of Biochemical Genetics, Department of Pediatrics, University of Vienna Children's Hospital, Vienna, Austria.

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April 2005

Mucopolysaccharidosis type II in females: case report and review of literature.

Pediatr Neurol 2005 Apr;32(4):270-2

Department of General Pediatrics, University Children's Hospital Vienna, Austria.

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April 2005

Rapid analysis of total plasma homocysteine by tandem mass spectrometry.

Clin Chim Acta 2005 Jan;351(1-2):139-41

Unit of Biochemical Genetics, University Children's Hospital of Vienna, Währinger Gürtel 18-20, A-1090 Vienna, Austria.

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January 2005

Fabry disease defined.

Eur J Clin Invest 2004 Jun;34(6):449; author reply 450

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June 2004

Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia.

Clin Chem 2002 Nov;48(11):1913-8

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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November 2002

Utilization of cornstarch in glycogen storage disease type Ia.

Eur J Gastroenterol Hepatol 2002 Nov;14(11):1251-6

Biochemistry, Metabolism, Endocrinology Unit, Institute of Child Health, Great Ormond Street Hospital for Children, NHS Trust, London, UK.

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November 2002

L-alanine supplementation in late infantile glycogen storage disease type II.

Pediatr Neurol 2002 Aug;27(2):145-6

Department of Pediatrics; University Children's Hospital, Vienna, Austria.

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August 2002

Familial complex chromosomal rearrangement resulting in a recombinant chromosome.

Am J Med Genet 2002 May;109(4):311-7

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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May 2002

Practical management of combined methylmalonicaciduria and homocystinuria.

J Child Neurol 2002 May;17(5):353-6

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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May 2002