Role of postmortem genetic testing demonstrated in a case of glutaric aciduria type II

Diagnostic Molecular Pathology

Volumn 19, Issue 3, 2010, Pages 184-186

  Lee, Han Chih Hencher ^a   Lai, Chi Kong ^a   Siu, Tak Shing ^a   Yuen, Yuet Ping ^a   Chan, Kwok Yin ^a   Chan, Albert Yan Wo ^a   Tam, Sidney ^a   Mak, Chloe Miu ^a   Lam, Ching Wan ^b  

^a QUEEN MARY HOSPITAL   (Hong Kong)

^b UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

alpha polypeptide (ETFA); electron transfer flavoprotein; glutaric aciduria type II; metabolic autopsy; molecular autopsy; personalized medicine

Indexed keywords

2 HYDROGLUTARIC ACID; ACYLCARNITINE; C REACTIVE PROTEIN; ETHYLMALONIC ACID; GENOMIC DNA; GLUTARIC ACID; MALONIC ACID; TROPONIN I; UNCLASSIFIED DRUG;

ADOLESCENT; ANAMNESIS; ARTICLE; AUTOPSY; BLOOD SAMPLING; DISEASE CLASSIFICATION; DISEASE SEVERITY; DNA EXTRACTION; DNA SEQUENCE; GAS CHROMATOGRAPHY; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; MASS SPECTROMETRY; MISSENSE MUTATION; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; PRIORITY JOURNAL; VOMITING;

ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; DIAGNOSIS; FATAL OUTCOME; GENETIC TESTING; HUMANS; MALE; MULTIPLE ACYL COENZYME A DEHYDROGENASE DEFICIENCY; PATHOLOGY, MOLECULAR;

EID: 77956254729     PISSN: 10529551     EISSN: None     Source Type: Journal    
DOI: 10.1097/PDM.0b013e3181c9a8a8     Document Type: Article

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