Associated Papers
Case report: Comprehensive exploration of a novel PFKM mutation in glycogen storage disease Type VII.
Chen Y et al.
Frontiers in Genetics, 2024
Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease.
Piirilä P et al.
Frontiers in Neurology, 2016
PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry.
Auranen M et al.
Neurology. Genetics, 2015
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