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Jagadisan, B. and Ranganath, P. (2017) Glycogen Storage Disease Type VI With a Novel Mutation in PYGL Gene. Indian Pediatrics, 54 (9). pp. 775-776. ISSN 0019-6061

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Abstract

Background: Glycogen storage disease type VI (GSD-VI) presents with failure to thrive and also fibrosis in some cases, without cirrhosis. Case characteristics: 2½-year-old girl presented with short stature, transaminase elevation and significant fibrosis, suggesting GSD-III. Observation: A pathogenic mutation in PYGL gene suggested GSD-VI. Message: GSD-VI should be a differential diagnosis whenever GSD-III is suspected.

Item Type: Article
Uncontrolled Keywords: Chronic liver disease, Mutation analysis, Storage disorder
Depositing User: Dr P Divakar
Date Deposited: 07 Oct 2017 19:55
Last Modified: 07 Oct 2017 19:55
URI: http://cdfd.sciencecentral.in/id/eprint/797

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