Case Report: 3-Methyglutaconic Aciduria in a Chinese Patient with Glycogen Storage Disease Ib
Author:
Affiliation:
1. Department of Chemical Pathology; The Chinese University of Hong Kong, Prince of Wales Hospital; N.T. Hong Kong, SAR
2. Department of Pediatrics; The Chinese University of Hong Kong, Prince of Wales Hospital; N.T. Hong Kong, SAR
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/B:BOLI.0000005603.04633.21/fullpdf
Reference17 articles.
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2. Type 1 glycogen storage diseases: disorders of the glucose-6-phosphatase complex;Chou;Curr Mol Med,2002
3. Maternal 3-methylglutaconic aciduria associated abnormalities in offspring;Koning;Lancet,1996
4. Inherited 3-methylglutaconic aciduria in two brothers another defect of leucine metabolism;Duran;J Pediatr,1982
5. Multiple syndromes of 3-methylglutaconic aciduria;Gibson;Pediatr Neurol,1993
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