Associated Papers
Blood glucose trends in glycogen storage disease type Ia: A cross-sectional study.
Fukuda T et al.
Journal of Inherited Metabolic Disease, 2023
Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia.
Kim YM et al.
Orphanet Journal of Rare Diseases, 2020
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
Molecular Genetics of Type 1 Glycogen Storage Diseases.
Yang Chou J et al.
Trends in Endocrinology and Metabolism: Tem, 1999
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
Linkage disequilibrium and linkage analysis of the glucose-6-phosphatase gene.
Wong LJ et al.
Human Genetics, 1998
Molecular prenatal diagnosis of glycogen storage disease type Ia.
Qu Y et al.
Prenatal Diagnosis, 1996
Prenatal diagnosis of glycogen storage disease type 1a by direct mutation detection.
Wong LJ
Prenatal Diagnosis, 1996
Structure-function analysis of human glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.
Lei KJ et al.
The Journal of Biological Chemistry, 1995
Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.
Lei KJ et al.
The Journal of Clinical Investigation, 1995
[Case of a combination of enzyme-deficient forms of methemoglobinemia with enzyme-deficient hemolytic disease and reduced oxygenation of hemoglobin].
Gembitskiĭ EV et al.
Problemy Gematologii I Perelivaniia Krovi, 1975
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