Multiple transport protein defects in a patient with glycogen storage disease type 1: GSD 1b/1cβ
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF02436000
Reference24 articles.
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3. Arion WJ, Ballas LM, Lange AJ, Wallin BK (1976) Microsomal membrane permeability and the hepatic glucose-6-phosphatase system.J Biol Chem 251: 4901–4907.
4. Arion WJ, Lange AJ, Wallis HE, Ballas LM (1980) Evidence for the participation of independent translocases for phosphate and glucose-6-phosphate in the microsomal glucose-6-phosphatase system.J Biol Chem 255: 10396–10406.
5. Arion WJ, Burchell B, Burchell A (1984) Specific inactivation of the phosphohydrolase component of the hepatic microsomal glucose-6-phosphatase system by diethyl pyrocarbonate. Biochem J220: 835–842.
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1. NPT4, a new microsomal phosphate transporter: Mutation analysis in glycogen storage disease type Ic;Journal of Inherited Metabolic Disease;2004-11
2. Mice Lacking Thioredoxin-interacting Protein Provide Evidence Linking Cellular Redox State to Appropriate Response to Nutritional Signals;Journal of Biological Chemistry;2004-06
3. Glucose-6-Phosphatase Mutation G188R Confers an Atypical Glycogen Storage Disease Type 1b Phenotype;Pediatric Research;2000-09
4. How many forms of glycogen storage disease type I?;European Journal of Pediatrics;2000-04-09
5. A Gene on Chromosome 11q23 Coding for a Putative Glucose- 6-Phosphate Translocase Is Mutated in Glycogen-Storage Disease Types Ib and Ic;The American Journal of Human Genetics;1998-10
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