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Adult-onset lysosomal storage disease in a Schipperke dog: clinical, morphological and biochemical studies

โœ Scribed by K. Knowles; J. Alroy; M. Castagnaro; S. S. Raghavan; R. M. Jakowski; G. O. Freden

Publisher
Springer-Verlag
Year
1993
Tongue
English
Weight
904 KB
Volume
86
Category
Article
ISSN
0001-6322

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Glycogen storage disease type 1a (von Gierke disease, GSD 1a) is caused by the deficiency of microsomal glucose-6-phosphatase (G6Pase) activity which catalyzes the final common step of glycogenolysis and gluconeogenesis. The recent cloning of the G6Pase cDNA and characterization of the human G6Pase