• Beneficial Effects of Ketogenic Diet on Phosphofructokinase Deficiency (Glycogen Storage Disease Type VII)
• Case report: Comprehensive exploration of a novel PFKM mutation in glycogen storage disease Type VII
• Combined aerobic exercise and enzyme replacement therapy rejuvenates the mitochondrial-lysosomal axis and alleviates autophagic blockage in Pompe disease
• Exercise efficiency impairment in metabolic myopathies
• Giant Heart of Classical Infantile-Onset Pompe Disease With Mirror Image Dextrocardia
• Glycogen Storage Disease
• Glycogen Storage Disease
• Hepatocyte-specific glucose-6-phosphatase deficiency disturbs platelet aggregation and decreases blood monocytes upon fasting-induced hypoglycemia
• Infantile form of muscle phosphofructokinase deficiency in a premature neonate
• Metabolic Myopathies
• My Diagnostic Odyssey-A Call to Expand Access to Genomic Testing for the Next Generation
• Novel vectors and approaches for gene therapy in liver diseases
• Rare disease therapeutics: The future of medical genetics in a changing landscape
• Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report
• Tarui Disease Caused by a Novel PFKM Genetic Variant in a Sub-Saharan African Patient
• The potential of a ketogenic diet to minimize effects of the metabolic fault in glycogen storage disease V and VII
• Update on polyglucosan storage diseases