Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I

Author:

Baric I.12,Wagner L.1,Feyh P.1,Liesert M.3,Buckel W.3,Hoffmann G. F.1

Affiliation:

1. ; Department of Neuropediatrics and Metabolic Diseases; Philipps University; Marburg Germany; and

2. ; Department of Pediatrics; University Hospital Centre; Zagreb Croatia

3. ; Institute of Microbiology; University of Marburg; Germany

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference27 articles.

1. Glutaric aciduria type 1: enzymatic and neuroradiologic investigations of two kindreds;Amir;J Pediatr,1989

2. Organic acids in urine: sample preparation for GC-MS;Bachmann;J Inher Metab Dis,1984

3. Atypical riboflavin-responsive glutaric aciduria, and deficient peroxisomal glutaryl-CoA oxidase activity: a new peroxisomal disorder;Bennett;J Inher Metab Dis,1991

4. Acute profound dystonia in infants with glutaric acidemia;Bergman;Pediatrics,1989

5. Glutaric aciduria type I;Campistol;J Pediatr,1992

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