Glycogen storage disease 1 is an autosomal recessive disorder caused by mutations of the SLC37A4 or G6PC gene. It manifests in liver and kidney. The renal disease includes most commonly glomerulosclerosis. A renotubular Fanconi syndrome is also observed in some cases.
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None (1993) The long-term outcome of patients with glycogen storage disease type Ia. |
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None (1993) Glycogen storage disease I and hepatocellular tumours. |
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Restaino I et al. (1993) Nephrolithiasis, hypocitraturia, and a distal renal tubular acidification defect in type 1 glycogen storage disease. |
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Fenske CD et al. (1998) Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q. |
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Nuoffer JM et al. (1997) Treatment with low-dose diazoxide in two growth-retarded prepubertal girls with glycogen storage disease type Ia resulted in catch-up growth. |
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Marcolongo P et al. (1998) Liver microsomal transport of glucose-6-phosphate, glucose, and phosphate in type 1 glycogen storage disease. |
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Faivre L et al. (1999) Long-term outcome of liver transplantation in patients with glycogen storage disease type Ia. |
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Seydewitz HH et al. (2000) Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations. |
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Trioche P et al. (2000) Apolipoprotein E polymorphism and serum concentrations in patients with glycogen storage disease type Ia. |
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Weinstein DA et al. (2001) Decreased urinary citrate excretion in type 1a glycogen storage disease. |
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Wierzbicki AS et al. (2001) Very low-density lipoprotein apolipoprotein B-100 turnover in glycogen storage disease type Ia (von Gierke disease). |
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Sun MS et al. (2002) Sustained hepatic and renal glucose-6-phosphatase expression corrects glycogen storage disease type Ia in mice. |
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Lam TK et al. (2005) Regulation of blood glucose by hypothalamic pyruvate metabolism. |
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None () //// |
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Kishnani PS et al. (2009) Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease. |
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Wang DQ et al. (2012) Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib. |
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Seger R et al. (1984) Short communication. Glycogenosis Ib: neutrophil microbicidal defects due to impaired hexose monophosphate shunt. |
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Gerin I et al. (1997) Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. |
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Veiga-da-Cunha M et al. (1998) A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. |
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Janecke AR et al. (1999) Molecular diagnosis of type 1c glycogen storage disease. |
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Kure S et al. (2000) Glycogen storage disease type Ib without neutropenia. |
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Lei KJ et al. (1993) Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. |
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Chevalier-Porst F et al. (1996) Mutation analysis in 24 French patients with glycogen storage disease type 1a. |
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Parvari R et al. (1997) Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies. |
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Stroppiano M et al. (1999) Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia. |
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Ki CS et al. (2004) Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia. |
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Ekstein J et al. (2004) Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. |
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Burchell A et al. (1991) Diagnosis of type 1B and 1C glycogen storage disease. |
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None (1990) Molecular pathology of glucose-6-phosphatase. |
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Burchell A et al. (1987) Diagnosis of type 1a and type 1c glycogen storage diseases in adults. |
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Nordlie RC et al. (1983) Type Ic, a novel glycogenosis. Underlying mechanism. |
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Annabi B et al. (1998) The gene for glycogen-storage disease type 1b maps to chromosome 11q23. |
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Visser G et al. (1998) Neutropenia and neutrophil dysfunction in glycogen storage disease type 1c. |
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Lin B et al. (1999) Type-1c glycogen storage disease is not caused by mutations in the glucose-6-phosphate transporter gene. |
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Sann L et al. (1980) In vivo evidence for defective activity of glucose-6-phosphatase in type IB glycogenosis. |
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None (1980) Is type 1b glycogenosis related to an anomeric preference for glucose-6-phosphate uptake by hepatic microsomes? |
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Kuzuya T et al. (1983) An adult case of type Ib glycogen-storage disease. Enzymatic and histochemical studies. |
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Buchino JJ et al. (1983) Glycogen storage disease type IB. |
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Schaub J et al. (1983) Glycogen storage disease type Ib. |
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Heyne K et al. (1984) Glycogen storage disease type Ib: familial bleeding tendency. |
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OMIM.ORG article Omim 232200 |