Autor: Mariapia Griffo
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Glycogen storage disease type VII (Tarui disease): a case report presenting a PFKM variant previously described only in canine models
Glycogen storage disease type VII (GSD-VII), or Tarui disease, is a rare autosomal recessive disorder caused by biallelic loss-of-function variants in the PFKM gene encoding the muscle isoform of phosphofructokinase (PFK), a key enzyme of the glycolyti…