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A case of glycogen storage disease type ia with multiple hepatic adenomas and g727t mutation in the glucose-6-phosphatase gene, and a comparison with other mutations previously reported

✍ Scribed by Yasuyuki Karasawa; Masakazu Kobayashi; Yoshiyuki Nakano; Yuji Aoki; Shigeyuki Kawa; Kendo Kiyosawa; Hitoshi Seki; Seiji Kawasaki; Kenichi Furihata; Nobuo Itoh


Book ID
119857473
Publisher
Nature Publishing Group
Year
1998
Tongue
English
Weight
390 KB
Volume
93
Category
Article
ISSN
0002-9270

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πŸ“œ SIMILAR VOLUMES


Identification of a novel mutation (867d
✍ Jan Peter Rake; Annelies M. ten Berge; Gepke Visser; Edwin Verlind; Klary E. Nie πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 10 KB πŸ‘ 2 views

We identified a novel mutation (867delA) in the glucose-6-phosphatase gene of two siblings with glycogen storage disease type Ia. Although both siblings share the same mutations, their phenotype regarding adult height and hepatomegaly differs. In glycogen storage disease type Ia, substantial heterog