Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry

Journal of Inherited Metabolic Disease

Volumn 34, Issue 1, 2011, Pages 173-180

  Al Dirbashi, Osama Y ^a,b   Kölker, Stefan ^c   Ng, Dione ^a   Fisher, Lawrence ^a   Rupar, Tony ^d   Lepage, Nathalie ^b   Rashed, Mohamed S ^e   Santa, Tomofumi ^f   Goodman, Stephen I ^g   Geraghty, Michael T ^a,b   Zschocke, Johannes ^h   Christensen, Ernst ⁱ   Hoffmann, Georg F ^c   Chakraborty, Pranesh ^a,b  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b UNIVERSITY OF OTTAWA   (Canada)

^c UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^d LONDON HEALTH SCIENCES CENTRE   (Canada)

^e Pharmagene Laboratory   (Egypt)

^f UNIVERSITY OF TOKYO   (Japan)

^g UNIVERSITY OF COLORADO   (United States)

^h INNSBRUCK MEDICAL UNIVERSITY   (Austria)

ⁱ Rigshospitalet   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYGLUTARIC ACID; GLUTARIC ACID; HYDROXYACID; UNCLASSIFIED DRUG; 3-HYDROXYGLUTARIC ACID; GLUTARIC ACID DERIVATIVE; GLUTARYL COENZYME A DEHYDROGENASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; DERIVATIZATION; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; ENZYME DEFICIENCY; GLUTARYL COENZYME A DEHYDROGENASE DEFICIENCY; HUMAN; INTERMETHOD COMPARISON; LIQUID CHROMATOGRAPHY; MASS FRAGMENTOGRAPHY; PRODUCT RECOVERY; QUANTITATIVE DIAGNOSIS; RETROSPECTIVE STUDY; TANDEM MASS SPECTROMETRY; URINALYSIS; DESICCATION; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; METABOLIC ENCEPHALOPATHY; METHODOLOGY; NEWBORN; NEWBORN SCREENING; URINE; VALIDATION STUDY;

AMINO ACID METABOLISM, INBORN ERRORS; BRAIN DISEASES, METABOLIC; CHROMATOGRAPHY, LIQUID; DESICCATION; GLUTARATES; GLUTARYL-COA DEHYDROGENASE; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; TANDEM MASS SPECTROMETRY; URINALYSIS;

EID: 79955881552     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9223-2     Document Type: Article

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