Publications by authors named "Olaf Bodamer"

100Publications

Congenital microgastria-limb reduction association: A case report and review of the literature.

Am J Med Genet A 2020 Sep 18. Epub 2020 Sep 18.

Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.a.61872DOI Listing
September 2020

Author Correction: Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study.

Sci Rep 2020 Jul 7;10(1):11160. Epub 2020 Jul 7.

Department of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1038/s41598-020-68532-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7341886PMC
July 2020

Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study.

Sci Rep 2020 06 10;10(1):9382. Epub 2020 Jun 10.

Department of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/s41598-020-66401-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7287104PMC
June 2020

An emerging role for endothelial barrier support therapy for congenital disorders of glycosylation.

J Inherit Metab Dis 2020 Jul 27;43(4):880-890. Epub 2020 Feb 27.

Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1002/jimd.12225DOI Listing
July 2020

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 Jun 31;28(6):770-782. Epub 2020 Jan 31.

Centre de Génétique et Centre de Référence Maladies Rares (Anomalies du Développement de l'Interrégion Est), Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France.

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http://dx.doi.org/10.1038/s41431-020-0571-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253452PMC
June 2020

The tale of two genes: from next-generation sequencing to phenotype.

Cold Spring Harb Mol Case Stud 2020 04 1;6(2). Epub 2020 Apr 1.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1101/mcs.a004846DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7133747PMC
April 2020

The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series.

Am J Med Genet A 2020 04 28;182(4):640-651. Epub 2019 Dec 28.

Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.61467DOI Listing
April 2020

Holoprosencephaly in Kabuki syndrome.

Am J Med Genet A 2020 03 17;182(3):441-445. Epub 2019 Dec 17.

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

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http://dx.doi.org/10.1002/ajmg.a.61454DOI Listing
March 2020

Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life.

Mol Genet Genomic Med 2020 02 8;8(2):e1072. Epub 2019 Dec 8.

McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

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http://dx.doi.org/10.1002/mgg3.1072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7005614PMC
February 2020

Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients.

Mol Genet Metab Rep 2019 Dec 19;21:100530. Epub 2019 Oct 19.

Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, United States of America.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100530DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6807367PMC
December 2019

Prenatal and perinatal history in Kabuki Syndrome.

Am J Med Genet A 2020 01 26;182(1):85-92. Epub 2019 Oct 26.

Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.61387DOI Listing
January 2020

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.

N Engl J Med 2019 10 9;381(17):1644-1652. Epub 2019 Oct 9.

From the Divisions of Genetics and Genomics (J.K., C.H., E.A.L., A.S., J.V., R.L.D., J.C., P.B.A., A.H.B., S.E.W., O.B., T.W.Y.), Newborn Medicine (P.B.A., P.E.G.), and Neuroradiology (P.E.G.), the Departments of Neurology (C.M.E.A., D.K.U., A. Poduri), Anesthesiology, Critical Care and Pain Medicine (L.C., C.B.B.), Physical and Occupational Therapy (A. Pasternak, E.R.B., K.A.P.), and Pharmacy (S.C., A. Patterson), the Institutional Centers for Clinical and Translational Research (A.K., B.B., L.W.), and the Manton Center for Orphan Disease Research (C.A.G., P.B.A., A.H.B.), Boston Children's Hospital (A.K., A.T., M.A., L.M.P., K.D., B.B., L.W., B.D.G., B.L.R., A.B.), the Department of Biomedical Informatics (J.K., P.J.P.), Harvard Medical School (J.K., C.M.E.A., E.A.L., L.C., B.D.G., B.L.R., P.B.A., A.H.B., P.E.G., D.K.U., S.E.W., P.J.P., A. Patterson, A.B., O.B., C.B.B., T.W.Y.), and the Gene Therapy Program (A.B.), Boston Children's and Dana-Farber Cancer and Blood Disorders Center (A.K., B.B., L.W.), Boston, Charles River Laboratories, Wilmington (L.E.B.), and Broad Institute of MIT and Harvard (E.A.L., O.B., T.W.Y.), Cambridge - all in Massachusetts; Charles River Laboratories, Montreal (J.D.); University of Colorado School of Medicine, Aurora (A.L.); Pendergast Consulting, Washington, DC (M.K.P.); Goldkind Consulting, Potomac, MD (S.F.G.); the Department of Neurology Feinberg School of Medicine, Northwestern University, Chicago (N.R.B., K.F., I.S., J.R.M.); the Department of Neurology, University of Rochester Medical Center, Rochester, NY (E.F.A.); Brain Hz Consulting, Del Mar, CA (C.R.); Tyndall Consulting, Wake Forest, NC (K.T.); and Brammer Bio, Alachua, FL (R.O.S.).

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http://dx.doi.org/10.1056/NEJMoa1813279DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6961983PMC
October 2019

A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome.

Am J Med Genet A 2019 09 11;179(9):1866-1871. Epub 2019 Jul 11.

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

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http://dx.doi.org/10.1002/ajmg.a.61291DOI Listing
September 2019

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Am J Hum Genet 2019 02 10;104(2):319-330. Epub 2019 Jan 10.

Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France; Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091 Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.12.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369415PMC
February 2019

Kabuki syndrome: international consensus diagnostic criteria.

J Med Genet 2019 02 4;56(2):89-95. Epub 2018 Dec 4.

President, the Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido, Hokkaido, Japan.

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http://dx.doi.org/10.1136/jmedgenet-2018-105625DOI Listing
February 2019

Injury type-dependent differentiation of NG2 glia into heterogeneous astrocytes.

Exp Neurol 2018 10 3;308:72-79. Epub 2018 Jul 3.

Miami Project to Cure Paralysis, Department of Neurological Surgery, University of Miami School of Medicine, Miami, FL 33136, United States. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00144886183020
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http://dx.doi.org/10.1016/j.expneurol.2018.07.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6704012PMC
October 2018

The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases.

Mov Disord Clin Pract 2018 Mar-Apr;5(2):149-155. Epub 2017 Dec 10.

Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1002/mdc3.12573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6005694PMC
December 2017

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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http://dx.doi.org/10.1542/peds.2016-0280CDOI Listing
July 2017

Biochemical and behavioral phenotype of AGAT and GAMT deficient mice following long-term Creatine monohydrate supplementation.

Metab Brain Dis 2017 Dec 14;32(6):1951-1961. Epub 2017 Aug 14.

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

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http://link.springer.com/10.1007/s11011-017-0092-3
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http://dx.doi.org/10.1007/s11011-017-0092-3DOI Listing
December 2017

Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).

Mol Genet Metab Rep 2017 Jun 3;11:62-64. Epub 2017 May 3.

Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Department of Genetics/UFRGS and INAGEMP, Porto Alegre, Brazil.

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http://dx.doi.org/10.1016/j.ymgmr.2017.02.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5426030PMC
June 2017

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. Epub 2017 Apr 24.

Department of Neuroradiology, University Hospital Heidelberg, Im Neuenheimer Feld 400, 60120, Heidelberg, Germany.

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http://ojrd.biomedcentral.com/articles/10.1186/s13023-017-06
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http://dx.doi.org/10.1186/s13023-017-0612-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5402644PMC
April 2017

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

Clin Chem 2017 03;63(3):786-788

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

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http://dx.doi.org/10.1373/clinchem.2016.269910DOI Listing
March 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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http://dx.doi.org/10.1055/s-0036-1593843DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5288002PMC
March 2017

Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.

Genet Med 2017 02 5;19(2):256-263. Epub 2017 Jan 5.

Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.

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http://dx.doi.org/10.1038/gim.2016.203DOI Listing
February 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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http://dx.doi.org/10.1373/clinchem.2016.258459DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5545176PMC
November 2016

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 14;10(9):e0133813. Epub 2015 Sep 14.

Division of Hematology and Oncology/Department of Medicine, University of Miami Miller School of Medicine, Miami, Florida, United States of America; Sylvester Comprehensive Cancer Center, University of Miami Miller School of Medicine, Miami, Florida, United States of America; Sheila and David Fuente Graduate Program in Cancer Biology, University of Miami Miller School of Medicine, Miami, Florida, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0133813PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4569544PMC
June 2016

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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http://dx.doi.org/10.1016/j.beem.2014.08.004DOI Listing
March 2015

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.

J Med Genet 2015 Jun 20;52(6):413-21. Epub 2015 Mar 20.

Unidade de Genética, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil Centro de Pesquisa sobre o Genoma Humano e Células-Tronco, Instituto de Biociências da Universidade de São Paulo, São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1136/jmedgenet-2015-103018DOI Listing
June 2015

Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I.

Curr Protoc Hum Genet 2015 Jan 20;84:17.17.1-17.17.8. 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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http://dx.doi.org/10.1002/0471142905.hg1717s84DOI Listing
January 2015

Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry.

Clin Chim Acta 2015 Jan 19;438:195-204. Epub 2014 Aug 19.

Service of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Centre hospitalier universitaire de Sherbrooke, 3001, 12(th) Avenue North, Sherbrooke, QCJ1H 5N4, Canada.

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http://dx.doi.org/10.1016/j.cca.2014.08.002DOI Listing
January 2015

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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http://dx.doi.org/10.1016/j.ymgme.2014.07.013DOI Listing
June 2015

Screening for late-onset Pompe disease in Finland.

Neuromuscul Disord 2014 Nov 28;24(11):982-5. Epub 2014 Jun 28.

Neuromuscular Research Center, Tampere University Hospital and University of Tampere, Tampere, Finland; Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland; Neurology Department, Vaasa Central Hospital, Vaasa, Finland.

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http://dx.doi.org/10.1016/j.nmd.2014.06.438DOI Listing
November 2014

Diagnosis of lysosomal storage disorders: Gaucher disease.

Curr Protoc Hum Genet 2014 Jul 14;82:17.15.1-6. Epub 2014 Jul 14.

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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http://dx.doi.org/10.1002/0471142905.hg1715s82DOI Listing
July 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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http://dx.doi.org/10.1186/1750-1172-9-45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4230272PMC
March 2014

Phenylketonuria Scientific Review Conference: state of the science and future research needs.

Mol Genet Metab 2014 Jun 6;112(2):87-122. Epub 2014 Mar 6.

The Young Face, Facial Plastic and Reconstructive Surgery, Cumming, GA 30041, USA. Electronic address:

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https://www.team-share.net/Phenylketonuria_Scientific_Review
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http://linkinghub.elsevier.com/retrieve/pii/S109671921400085
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http://dx.doi.org/10.1016/j.ymgme.2014.02.013DOI Listing
June 2014

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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http://dx.doi.org/10.1038/ejhg.2014.12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169538PMC
October 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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http://doi.wiley.com/10.1002/0471142905.hg1714s79
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http://dx.doi.org/10.1002/0471142905.hg1714s79DOI Listing
October 2013

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. Epub 2013 Sep 20.

Department of Pathology and Mailman Center for Child Development, Room 7050, University of Miami Miller School of Medicine, 1601 NW 12th Avenue, Miami, FL 33136, USA.

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http://dx.doi.org/10.1186/1755-8166-6-38DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3853444PMC
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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http://dx.doi.org/10.3343/alm.2013.33.4.274DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3698306PMC
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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http://dx.doi.org/10.1002/0471142905.hg1713s77DOI Listing
June 2013

Newborn screening for lysosomal storage disorders in hungary.

JIMD Rep 2012 21;6:117-25. Epub 2012 Mar 21.

Centogene GmbH, Laboratories for Biochemical Genetics and Newborn Screening, Vienna, Austria.

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http://dx.doi.org/10.1007/8904_2012_130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3565645PMC
February 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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http://link.springer.com/10.1007/s10545-012-9547-1
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http://dx.doi.org/10.1007/s10545-012-9547-1DOI Listing
September 2013

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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http://doi.wiley.com/10.1002/0471142905.hg1711s75
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http://dx.doi.org/10.1002/0471142905.hg1711s75DOI Listing
October 2012

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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http://dx.doi.org/10.1542/peds.2011-2711DOI Listing
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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http://dx.doi.org/10.3343/alm.2012.32.5.319DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3427818PMC
September 2012

Enhanced interpretation of newborn screening results without analyte cutoff values.

Authors:
Gregg Marquardt Robert Currier David M S McHugh Dimitar Gavrilov Mark J Magera Dietrich Matern Devin Oglesbee Kimiyo Raymond Piero Rinaldo Emily H Smith Silvia Tortorelli Coleman T Turgeon Fred Lorey Bridget Wilcken Veronica Wiley Lawrence C Greed Barry Lewis François Boemer Roland Schoos Sandrine Marie Marie-Françoise Vincent Yuri Cleverthon Sica Mouseline Torquado Domingos Khalid Al-Thihli Graham Sinclair Osama Y Al-Dirbashi Pranesh Chakraborty Mark Dymerski Cory Porter Adrienne Manning Margretta R Seashore Jonessy Quesada Alejandra Reuben Petr Chrastina Petr Hornik Iman Atef Mandour Sahar Abdel Atty Sharaf Olaf Bodamer Bonifacio Dy Jasmin Torres Roberto Zori David Cheillan Christine Vianey-Saban David Ludvigson Adrya Stembridge Jim Bonham Melanie Downing Yannis Dotsikas Yannis L Loukas Vagelis Papakonstantinou Georgios S A Zacharioudakis Ákos Baráth Eszter Karg Leifur Franzson Jon J Jonsson Nancy N Breen Barbara G Lesko Stanton L Berberich Kimberley Turner Margherita Ruoppolo Emanuela Scolamiero Italo Antonozzi Claudia Carducci Ubaldo Caruso Michela Cassanello Giancarlo la Marca Elisabetta Pasquini Iole Maria Di Gangi Giuseppe Giordano Marta Camilot Francesca Teofoli Shawn M Manos Colleen K Peterson Stephanie K Mayfield Gibson Darrin W Sevier Soo-Youn Lee Hyung-Doo Park Issam Khneisser Phaidra Browning Fizza Gulamali-Majid Michael S Watson Roger B Eaton Inderneel Sahai Consuelo Ruiz Rosario Torres Mary A Seeterlin Eleanor L Stanley Amy Hietala Mark McCann Carlene Campbell Patrick V Hopkins Monique G de Sain-Van der Velden Bert Elvers Mark A Morrissey Sherlykutty Sunny Detlef Knoll Dianne Webster Dianne M Frazier Julie D McClure David E Sesser Sharon A Willis Hugo Rocha Laura Vilarinho Catharine John James Lim S Graham Caldwell Kathy Tomashitis Daisy E Castiñeiras Ramos Jose Angel Cocho de Juan Inmaculada Rueda Fernández Raquel Yahyaoui Macías José María Egea-Mellado Inmaculada González-Gallego Carmen Delgado Pecellin Maria Sierra García-Valdecasas Bermejo Yin-Hsiu Chien Wuh-Liang Hwu Thomas Childs Christine D McKeever Tijen Tanyalcin Mahera Abdulrahman Cecilia Queijo Aída Lemes Tim Davis William Hoffman Mei Baker Gary L Hoffman

Genet Med 2012 Jul 16;14(7):648-55. Epub 2012 Feb 16.

Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA.

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http://dx.doi.org/10.1038/gim.2012.2DOI Listing
July 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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http://dx.doi.org/10.1016/j.jpeds.2011.08.007DOI Listing
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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http://dx.doi.org/10.1097/DBP.0b013e31822177a8DOI Listing
November 2011

Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency.

Mol Genet Metab 2011 Aug 5;103(4):358-61. Epub 2011 May 5.

Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.

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http://dx.doi.org/10.1016/j.ymgme.2011.04.010DOI Listing
August 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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http://dx.doi.org/10.1016/j.jpeds.2010.09.058DOI Listing
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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http://dx.doi.org/10.1016/j.cca.2010.11.006DOI Listing
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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http://dx.doi.org/10.1007/s10354-010-0814-1DOI Listing
December 2010

Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry.

Clin Chim Acta 2010 Oct 22;411(19-20):1428-31. Epub 2010 Mar 22.

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

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http://dx.doi.org/10.1016/j.cca.2010.03.009DOI Listing
October 2010

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.

Arch Dis Child 2010 Apr;95(4):296-301

Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague, Ke Karlovu 2, 128 08 Prague 2, Czech Republic.

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http://dx.doi.org/10.1136/adc.2009.168096DOI Listing
April 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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http://dx.doi.org/10.1016/j.ymgme.2009.12.016DOI Listing
May 2010

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 29;411(5-6):345-50. Epub 2009 Nov 29.

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

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http://dx.doi.org/10.1016/j.cca.2009.11.027DOI Listing
March 2010

A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia.

Laryngoscope 2010 Feb;120(2):359-64

Department of Otorhinolaryngology, Division of Molecular Pharmacokinetics and Imaging, Biochemical Genetics and National Neonatal Screening Laboratories, Vienna, Austria.

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http://dx.doi.org/10.1002/lary.20689DOI Listing
February 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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http://dx.doi.org/10.1016/j.ymgme.2009.06.003DOI Listing
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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http://dx.doi.org/10.1016/j.ymgme.2008.12.020DOI Listing
April 2009

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

Department of General and Transplant Surgery, Medical University of Innsbruck, Innsbruck, Austria.

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http://dx.doi.org/10.1089/ten.tea.2008.0217DOI Listing
May 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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http://dx.doi.org/10.1373/clinchem.2008.107722DOI Listing
October 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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http://dx.doi.org/10.1016/j.ymgme.2008.05.001DOI Listing
August 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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http://dx.doi.org/10.1016/s0149-2918(08)80035-5DOI Listing
September 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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http://dx.doi.org/10.1016/j.ymgme.2007.12.001DOI Listing
May 2008

Methylation status in females with rett syndrome.

J Child Neurol 2007 May;22(5):635-8

Vienna University Hospital, Department of Pediatrics, Vienna, Austria.

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http://dx.doi.org/10.1177/0883073807302616DOI Listing
May 2007

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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http://dx.doi.org/10.1002/ajmg.a.31792DOI Listing
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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http://linkinghub.elsevier.com/retrieve/pii/S109671920700129
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http://dx.doi.org/10.1016/j.ymgme.2007.04.008DOI Listing
August 2007

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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http://dx.doi.org/10.1097/01.gim.0000232478.43335.19DOI Listing
August 2006

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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http://linkinghub.elsevier.com/retrieve/pii/S000989810600239
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http://dx.doi.org/10.1016/j.cca.2006.04.013DOI Listing
November 2006