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Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan

โœ Scribed by M. Okubo; A. Horinishi; M. Takeuchi; Y. Suzuki; N. Sakura; Y. Hasegawa; T. Igarashi; K. Goto; H. Tahara; S. Uchimoto; K. Omichi; H. Kanno; K. Hayasaka; T. Murase


Publisher
Springer
Year
2000
Tongue
English
Weight
295 KB
Volume
106
Category
Article
ISSN
0340-6717

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๐Ÿ“œ SIMILAR VOLUMES


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Glycogen storage disease type III (GSD-III) is an autosomal recessive disease resulting from deficient glycogen debranching enzyme (ODE) activity. A child with GDE deficient in both liver and muscle (GSD-IIIa) had recurrent hypoglycemia, seizures, severe cardiomegaly, and hepatomegaly and died at 4

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