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Novel mutations in two Japanese cases of glycogen storage disease type IIIa and a review of the literature of the molecular basis of glycogen storage disease type III

✍ Scribed by T. Fukuda; H. Sugie; M. Ito

Book ID
110228350
Publisher
Springer
Year
2000
Tongue
English
Weight
96 KB
Volume
23
Category
Article
ISSN
0141-8955

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✍ Ann Burchell πŸ“‚ Article πŸ“… 1992 πŸ› John Wiley and Sons 🌐 English βš– 817 KB

Microsomal glucose-6-phosphatase catalyses the last step in liver glucose production. Glucose-6-phosphatase deficiency, now termed type 1 glycogen storage disease, was first described almost 40 years ago but until recently very little was known about the molecular basis of the various type 1 glycoge