Associated Papers
Long-Term Treatment of Lipoprotein Lipase Deficiency with Medium-Chain Triglyceride-Enriched Diet: A Case Series.
Aljouda L et al.
Nutrients, 2023
High childhood serum triglyceride concentrations associate with hepatocellular adenoma development in patients with glycogen storage disease type Ia.
Haring MPD et al.
Jhep Reports : Innovation in Hepatology, 2022
Recent development and gene therapy for glycogen storage disease type Ia.
Chou JY et al.
Liver Research (beijing, China), 2017
Rapid screening of 12 common mutations in Turkish GSD 1a patients using electronic DNA microarray.
Eminoglu TF et al.
Gene, 2013
Glucose-6-phosphatase deficiency.
Froissart R et al.
Orphanet Journal of Rare Diseases, 2011
Obesity and reversed growth retardation in a child with type Ia glycogen storage disease.
Karnsakul W et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2010
Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.
Chou JY et al.
Human Mutation, 2008
Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability.
Angaroni CJ et al.
Molecular Genetics and Metabolism, 2004
Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients.
Trioche P et al.
Human Mutation, 2000
Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.
Rake JP et al.
European Journal of Pediatrics, 2000
Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. Online.
Rake JP et al.
Human Mutation, 1999
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