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Rare diseases / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Newborn screening / Very long-chain acyl-coenzyme A dehydrogenase deficiency / Fatty-acid metabolism disorder / Acyl CoA dehydrogenase / Phenylketonuria / Mitochondrial trifunctional protein / Inborn error of lipid metabolism / Health / Genetic genealogy / Medical genetics


MS/MS-BASED NEWBORN AND FAMILY SCREENING DETECTS ASYMPTOMATIC PATIENTS WITH VERY-LONG-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY UTE SPIEKERKOETTER, MD, BIN SUN, MD, THOMAS ZYTKOVICZ, PHD, RONALD WANDERS, PHD, ARNOLD W. STR
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Document Date: 2012-05-31 13:41:14

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City

Worchester / Hannover / Reutlingen / Washington / DC / Report / Munich / Pittsburgh / Nashville / Amsterdam / Dusseldorf / /

Company

Rohr / Brown / Metabolic Diagnostics / acyl-CoA / Mosby Inc. / Proc Natl Acad Sci U S A / Sims HF / NeoGen / Cox / Wiley V Sim KG / Andresen BS / Newborn Screening Laboratory / /

Country

Germany / Netherlands / United States / /

Currency

pence / USD / /

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Facility

Laboratory Genetic Metabolic Diseases / Newborn Screening Center / University of Leipzig / University Children’s Hospital / University of Amsterdam / Emma Children’s Hospital / University of Massachusetts Medical School / University of Massachusetts / Laboratory Becker / Heinrich Heine University Hospital / /

IndustryTerm

medium chain / substantial / personal communications / dietary management / reaction product / human mitochondrial very long chain / /

MedicalCondition

ventricular tachycardia / recurrent myoglobinuria / fatty acid oxidation disorders / Myopathy / acute cardiomyopathy / biochemically confirmed disease / later-onset disease / heterogeneous disease / infectious / infantileonset2 hypoketotic hypoglycemia / MCAD deficiency / very long chain acyl-dehydrogenase deficiency / biochemical deficiency / disorder / lateronset disease / recurrent hypoketotic hypoglycemia / phenylketonuria / illness / MS / hypoketotic hypoglycemia / VLCAD deficiency / human mitochondrial very long chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy / cardiomyopathy / disease / fatty acid disorders / very long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy / episodic muscle weakness / severe hypertrophic cardiomyopathy / dehydrogenase deficiency / future disease / suspected mechanisms producing deficiency / Ijlst L. Disorders / deficiency / severe cardiomyopathy / muscular hypotonia / mitochondrial trifunctional protein deficiencies / mild MCAD deficiency / disorders / /

NaturalFeature

Zabot MT / /

Organization

Department of General Pediatrics / National Institute of Health / University of Massachusetts / Boston / Vanderbilt University Institutional Review Board / Department of Pediatrics / Children’s Hospital / Emma Children’s Hospital / Vanderbilt University School of Medicine / United Nations / University of Amsterdam / US Federal Reserve / Genetics Resource Center / Heinrich Heine University Hospital / University of Massachusetts Medical School / /

Person

THOMAS ZYTKOVICZ / UTE SPIEKERKOETTER / Arch Dis / V. Shih / A. Otten / ARNOLD W. STRAUSS / A. Schulze / J. Sander / UDO WENDEL / R. Fingerhut / D. Marsden / Van Coster / Wendel U. Very-long / RONALD WANDERS / C. Nowak / /

Position

Carpenter K / model for VLCAD / Marshall / /

ProvinceOrState

North Dakota / Tennessee / Pennsylvania / Massachusetts / /

Region

New England / /

Technology

x-ray / Cloning / genotype / /

URL

http /

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