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
First description of phosphofructokinase deficiency in spain: identification of a novel homozygous missense mutation in the PFKM gene.
Vives-Corrons JL et al.
Frontiers in Physiology, 2013
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