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Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability

✍ Scribed by Celia J. Angaroni; Raquel Dodelson de Kremer; Carlos E. Argaraña; Ana E. Paschini-Capra; Alicia N. Giner-Ayala; Roberto J. Pezza; Chi-Jiunn Pan; Janice Y. Chou


Book ID
116987527
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
307 KB
Volume
83
Category
Article
ISSN
1096-7192

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Heterogeneous mutations in the glucose-6
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Glycogen storage disease type Ia (GSD-Ia) is an autosomal recessive disorder of glycogen metabolism caused by glucose-6-phosphatase (G6Pase) deficiency. It is characterized by short stature, hepatomegaly, hypoglycemia, hyperuricemia, and lactic acidemia. Various mutations have been reported in the G