Similä ME, Auranen M, Piirilä PL. Beneficial Effects of Ketogenic Diet on Phosphofructokinase Deficiency (GSD VII). Frontiers in Neurology. 2020
5-year case study supporting ketogenic diet as long-term intervention
PMID: 32117019
Filosto M et al. Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone. Frontiers in Neurology. 2018
Case report establishing myotoxic drug interactions in GSD VII
PMID: 30792690
Musumeci O, Bruno C, Mongini T et al. Clinical Features and New Molecular Findings in Muscle Phosphofructokinase Deficiency (GSD Type VII). Neuromuscular Disorders. 2012
Largest case series of GSD VII with molecular and clinical correlation
PMID: 22133655
Piirilä P, Similä ME, Palmio J et al. Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease). Frontiers in Neurology. 2016
Forearm exercise test profile distinguishing GSD VII from McArdle disease
PMID: 27303362
Hannah WB, Derks TGJ, Drumm ML et al. Glycogen Storage Diseases. Nature Reviews Disease Primers. 2023
Current comprehensive review of all glycogen storage diseases
PMID: 37679331
Tarnopolsky MA. Myopathies Related to Glycogen Metabolism Disorders. Neurotherapeutics. 2018
Evidence-based management review including dietary therapies
PMID: 30397902
Bhai SF, Vissing J. Diagnosis and management of metabolic myopathies. Muscle and Nerve. 2023
Current practical management guidelines for metabolic myopathies
onlinelibrary.wiley.com/doi/10.1002/mus.27840
Chen Y, Wang X, Ji N et al. Case Report: Comprehensive Exploration of a Novel PFKM Mutation in Glycogen Storage Disease Type VII. Frontiers in Genetics. 2024
Novel PFKM mutation characterization and clinical correlation
PMID: 39156960
National Library of Medicine MedlinePlus. Glycogen storage disease type VII. 2014
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