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Rare diseases / Maple syrup urine disease / Dihydrolipoamide dehydrogenase / BCKDHB / Chromosome 1 / Genetics / Medical genetics / Cytochrome P450 reductase / Mutation / Medicine / Health / Biology


Microsoft Word - Info_sheet=MSUD_2013.doc
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Document Date: 2013-05-22 19:03:26


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Facility

University of Washington / /

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IndustryTerm

carrier frequency / /

MedicalCondition

lethargy / Syrup Urine Disease / vomiting / encephalopathy and metabolic disturbances / E3 deficiency / respiratory failure / disorder / Krebs cycle dysfunction / liver failure / exertional fatigue / Dihydrolipoamide Dehydrogenase Deficiency / Deficiency / coma / severe liver failure / Maple Syrup Urine Disease / progressive encephalopathy / sudden life threatening coma / /

Organization

University of Washington / Seattle / /

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ProvinceOrState

Maryland / Pennsylvania / /

Region

southeastern Pennsylvania / /

Technology

alpha / Genotype / Gene Analysis / /

URL

www.genedx.com / http /

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