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