Articles with "gsd type" as a keyword



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Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China

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Published in 2022 at "Human Mutation"

DOI: 10.1002/humu.24345

Abstract: Glycogen storage disease (GSD) Type VI is a glycogenolysis disorder caused by variants of PYGL. Knowledge about this disease is limited because only approximately 50 cases have been reported. We investigated the clinical profiles, molecular… read more here.

Keywords: disease gsd; glycogen storage; disease; gsd type ... See more keywords