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Mutations in the glucose-6-phosphatase-α (G6PC) gene that cause type Ia glycogen storage disease

✍ Scribed by Janice Y. Chou; Brian C. Mansfield


Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
245 KB
Volume
29
Category
Article
ISSN
1059-7794

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✦ Synopsis


Communicated by William S


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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

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