• A first in literature: anesthesia management in kidney transplant surgery of a patient with McArdle disease
• A new mutation in PYGM causing McArdle disease in a Brazilian patient
• A novel compound heterozygous mutation in PYGM gene associated with McArdle's disease
• A thermodynamic function of glycogen in brain and muscle
• Absence of p.R50X <em>Pygm</em> read-through in McArdle disease cellular models
• Acute ketone supplementation in the absence of muscle glycogen utilization: Insights from McArdle disease
• An autosomal recessive variant in PYGM causes myophosphorylase deficiency in Red Angus composite cattle
• An elderly diabetic patient with McArdle disease and recurrent rhabdomyolysis: a potential association with late hypoinsulinemia?
• An experiment of nature links muscle glycogen unavailability with very high fat oxidation rates despite low aerobic fitness
• Atraumatic Acute Paraspinal Compartment Syndrome in a Patient With McArdle's Disease
• Biomechanical muscle stiffness measures of extensor digitorum explain potential mechanism of McArdle sign
• Can a modified ketogenic diet be a nutritional strategy for patients with McArdle disease? Results from a randomized, single-blind, placebo-controlled, cross-over study
• Can hyperuricemia predict glycogen storage disease (McArdle's disease) in rheumatology practice? (Myogenic hyperuricemia)
• Carbohydrate Ingestion before Exercise for Individuals with McArdle Disease: Survey Evidence of Implementation and Perception in Real-World Settings
• Cardiac arrest as a manifestation of unknown Type V glycogenosis: a case report
• Cardiac comorbidities in McArdle disease: case report and systematic review
• Cardiac manifestations of McArdle disease
• Clinical and Laboratory Findings on Glycogen Storage Disease Type V: Results from a Retrospective Observational Study in a Tertiary Hospital
• Clinical Presentation and Management of Severe Acute Renal Failure in McArdle Disease
• Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)
• Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation
• Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
• Development of Continuum of Care for McArdle disease: A practical tool for clinicians and patients
• Diagnosis and genetic analysis of a case with glycogen storage disease type V caused by compound heterozygous mutations in the PYGM gene
• Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V
• Dose-response effect of pre-exercise carbohydrates under muscle glycogen unavailability: Insights from McArdle disease
• Exercise efficiency impairment in metabolic myopathies
• Exercise induced muscle weakness in a young adult: McArdle's disease unusual presentation
• Exercise therapy for muscle and lower motor neuron diseases
• Fatigue and associated factors in 172 patients with McArdle disease: An international web-based survey
• Functional and enzymatic improvement during pregnancy in McArdle's disease
• Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology
• Generation of the iPSC line IISHDOi007-A from peripheral blood mononuclear cells from a patient with McArdle disease harbouring the mutation c.2392 T &gt; C; p.Trp798Arg
• Glycogen storage disease type V: a still under-recognized condition lacking definitive genotype-phenotype correlates
• High prevalence of paraspinal muscle involvement in adults with McArdle disease
• Hypercholesterolemia treated with a PCSK9 inhibitor in a patient with ischemic heart disease and McArdle disease
• Identification of a novel PYGM mutation in a McArdle disease patient misdiagnosed as hypokalemic periodic paralysis
• Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis
• International patient group harnesses social media to help inform rare disease research: use of a low carbohydrate ketogenic diet in McArdle disease
• Lack of muscle mTOR kinase activity causes early onset myopathy and compromises whole-body homeostasis
• Long-Term Exercise Intervention in Patients with McArdle Disease: Clinical and Aerobic Fitness Benefits
• Longitudinal case study and phenotypic multimodal characterization of McArdle disease-linked retinopathy: insight into pathomechanisms
• Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?
• Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model
• McArdle disease and pregnancy: A case report and scoping review of pregnancy outcomes
• McArdle disease causing rhabdomyolysis following vaginal delivery
• McArdle disease in a patient with anorexia nervosa: a case report
• McArdle disease presenting as abnormal liver function: biochemical, anatomical and genetic characterisation in the first genetically confirmed Chinese family with a novel splicing variant
• McArdle Disease Rhabdomyolysis Precipitated by Acetazolamide for Idiopathic Intracranial Hypertension
• McArdle Disease: New Insights into Its Underlying Molecular Mechanisms
• MCARDLE'S DISEASE AND PHYSICAL ACTIVITY - A MIXED BLESSING
• McArdle's disease in four pediatric patients. Diagnostic algorithm for exercise intolerance
• McArdle's disease revealed by acute low back pain
• Metabolic adaptations in McArdle's disease and its mechanisms
• Metabolic aspects of glycogenolysis with special attention to McArdle disease
• Metabolic Myopathies in the Era of Next-Generation Sequencing
• Muscle diffusion tensor imaging in glycogen storage disease V (McArdle disease)
• Muscle Glycogen Phosphorylase and Its Functional Partners in Health and Disease
• Muscle glycogen unavailability and fat oxidation rate during exercise: Insights from McArdle disease
• Muscle MRI in McArdle Disease: A European Multicenter Observational Study
• New perspectives for the treatment and follow-up of glycogen storage disease type V: DL-3-hydroxybutyric acid with modified Atkins diet and quadriceps femoris shear wave elastography
• No effect of oral ketone ester supplementation on exercise capacity in patients with McArdle disease and healthy controls: A randomized placebo-controlled cross-over study
• No effect of triheptanoin on exercise performance in McArdle disease
• Novel Asp511Thr mutation in McArdle disease with acute kidney injury caused by rhabdomyolysis
• Patient-Reported Experiences with a Low-Carbohydrate Ketogenic Diet: An International Survey in Patients with McArdle Disease
• Pearls &amp; Oy-sters: Hickam's Dictum in Genetic Myopathies: When a Proven Pathogenic Mutation Does Not Explain the Phenotype
• Phenotype and genotype of 197 British patients with McArdle disease: An observational single-centre study
• Physiological aspects of muscular adaptations to training translated to neuromuscular diseases
• Pigmentary Changes in the Retina in a Patient with McArdle's Disease
• Powerless muscles in McArdle disease - what general practitioners should know
• Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies
• PYGM mRNA expression in McArdle disease: Demographic, clinical, morphological and genetic features
• Recurrent atraumatic compartment syndrome as a manifestation of genetic neuromuscular disease
• Reference values for the 12 minute walk test in McArdle patients
• Repeated oral sucrose dosing after the second wind is unnecessary in patients with McArdle disease: Results from a randomized, placebo-controlled, double-blind, cross-over study
• Repeatedly in Rhabdomyolysis
• Results of an open label feasibility study of sodium valproate in people with McArdle disease
• Retinopathy in McArdle Disease
• Rhabdomyolysis Episode in an Individual with McArdle's Disease after Low Aerobic Exercise
• Rhabdomyolysis in McArdle disease caused by scuba diving
• Rhabdomyolysis of rare etiology
• Sex Differences and the Influence of an Active Lifestyle on Adiposity in Patients with McArdle Disease
• Single-centre experience on genotypic and phenotypic features of southern Brazilian patients with McArdle disease
• Spondyloarthropathy associated with glycogen storage disease type V mimicking polymyositis
• Syndromic PRD: case report of McArdle retinopathy and review of literature
• Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease
• The effect of muscle glycogen phosphorylase (Pygm) knockdown on zebrafish morphology
• The evaluation of inherited metabolic diseases presenting with rhabdomyolysis from Turkey: Single center experience
• The phenotypic and genotypic features of a Scottish cohort with McArdle disease
• The potential of a ketogenic diet to minimize effects of the metabolic fault in glycogen storage disease V and VII
• The ratio of maximal handgrip force and maximal cycloergometry power as a diagnostic tool to screen for metabolic myopathies
• Titrating a modified ketogenic diet for patients with McArdle disease: A pilot study
• Total thyroidectomys in patient with McArdle's syndrome: Anesthetic management
• Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life
• Translational Medicine: Exercise Physiology Applied to Metabolic Myopathies
• Treatment of a high cardiovascular risk patient with McArdle's disease with PCSK9 inhibitors
• Valuing Mundane Manifestations of Rare, but Underdiagnosed, Diseases in Portugal: The Example of McArdle Disease
• When POTS is the tip of the iceberg: Rare cases of dysautonomia as a possible manifestation of another disorder
• Whole-body muscle MRI in McArdle disease
• Whole-exome sequencing detects <em>PYGM</em> variants in two adults with McArdle disease