3-Methylglutaconic aciduria type I: Clinical heterogeneity as a neurometabolic disease
Author:
Affiliation:
1. ; Department of Pediatrics; Akita University School of Medicine; Akita Japan
2. ; Department of Pediatrics; Hiraka General Hospital; Akita Japan
3. ; Department of Pediatrics; Gifu University School of Medicine; Gifu Japan
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005421111554/fullpdf
Reference11 articles.
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2. 3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a ‘new’ type (‘Type 4’);Chitayat;J Inher Metab Dis,1992
3. Inherited 3-methylglutaconic aciduria in two brothers - another defect of leucine metabolism;Duran;J Pediatr,1982
4. 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency as detected by radiochemical assay in cell extracts by thin-layer chromatography, and identification of three new cases;Gibson;Clin Chem.,1990
5. Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria;Gibson;J Pediatr,1991
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