3-Methylglutaconyl-CoA hydratase deficiency: A new patient with speech retardation as the leading sign
Author:
Affiliation:
1. ; University Children's Hospital Freiburg; Germany
2. ; Oregon Health Sciences University Portland; Oregon USA
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005670911799/fullpdf
Reference12 articles.
1. A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia;Coste;Neurology,1989
2. Inherited 3-methylglutaconic aciduria in two brothers-another defect of leucine metabolism;Duran;J Pediatr,1982
3. Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria;Gibson;J Pediatr,1991
4. 3-Methylglutaconyl-coenzyme-A hydratase deficiency: a new case;Gibson;J Inherit Metab Dis,1992
5. Multiple syndromes of 3-methylglutaconic aciduria;Gibson;Pediatr Neurol,1993
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