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-Reference-Cited by-同舟云学术

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

Published:1999-12 Issue:8 Volume:22 Page:867-882
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

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

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005683222187/fullpdf

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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