The Impact of Muscle Fatigue on McArdle Disease: A Case Report.

Hypercholesterolemia Successfully Treated With Two Different PCSK9 Inhibitors in a Patient With Glycogen Storage Disease IXd: Phosphorylase Kinase Deficiency.

Lactate-induced mitochondrial magnesium uptake and its metabolic implications in the McArdle disease model.

When Fatigue Hides A Metabolic Myopathy: A Case Report of Mcardle Disease with Molecular Diagnosis.

PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia.

Low-carbohydrate ketogenic diet in Mc Ardle's disease: a single-blinded randomized controlled trial.

Improvement of Symptoms in a Patient With Glycogen Storage Disease Through Nutritional Guidance and Exercise Therapy.

A disease that is difficult to predict: regional distribution and phenotypic, histopathological and genetic findings in McArdle disease.

Case Report: Perioperative Management of a Patient with Glycogen Storage Disease Type IXd.

Understanding Glycogen Storage Disease Type IX: A Systematic Review with Clinical Focus-Why It Is Not Benign and Requires Vigilance.

Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review.

Acute kidney injury after swimming: a pediatric case of McArdle disease.

Recurrent rhabdomyolysis as a presenting feature of glycogenosis IX (GSD IX): a case report.

McArdle Disease: Insights Into a Rare Metabolic Myopathy in a Young Boy With Recurrent Exercise-Induced Muscle Weakness.

Glycogen storage disease type V: delayed diagnosis of a cause of exercise intolerance in a patient with hereditary haemorrhagic telangiectasia.

McArdle Disease: A Diagnostic Challenge Due to Nonspecific Clinical Manifestations.

Late Presentation of McArdle's Disease Mimicking Polymyalgia Rheumatica: A Case Report and Review of the Literature.

Experiences of living with GSD5 (McArdle) disease: challenges and strategies. A qualitative study in the Netherlands.

Unusual presentation of PYGM gene mutation as late-onset McArdle disease with camptocormia: a case report.

McArdle's Disease: A Differential Diagnosis of Metabolic Myopathies.

The Autophagic Activator GHF-201 Can Alleviate Pathology in a Mouse Model and in Patient Fibroblasts of Type III Glycogenosis.

Exercise Intolerance in McArdle Disease: A Role for Cardiac Impairment? A Preliminary Study in Humans and Mice.

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.

A Functional Human Glycogen Debranching Enzyme Encoded by a Synthetic Gene: Its Implications for Glycogen Storage Disease Type III Management.

Metabolic aspects of glycogenolysis with special attention to McArdle disease.

Glycogen myophosphorylase loss causes increased dependence on glucose in iPSC-derived retinal pigment epithelium.

Cardiac comorbidities in McArdle disease: case report and systematic review.

Carbohydrate Ingestion before Exercise for Individuals with McArdle Disease: Survey Evidence of Implementation and Perception in Real-World Settings.

An autosomal recessive variant in PYGM causes myophosphorylase deficiency in Red Angus composite cattle.

[McArdle's disease revealed by acute low back pain].

A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype.

Glycogen storage disease type V: a still under-recognized condition lacking definitive genotype-phenotype correlates.

Syndromic PRD: case report of McArdle retinopathy and review of literature.

[Powerless muscles in McArdle disease - what general practitioners should know].

Defect in degradation of glycogenin-exposed residual glycogen in lysosomes is the fundamental pathomechanism of Pompe disease.

Acute ketone supplementation in the absence of muscle glycogen utilization: Insights from McArdle disease.

Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life.

Exercise induced muscle weakness in a young adult: McArdle's disease unusual presentation.

Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V.

Fatigue and associated factors in 172 patients with McArdle disease: An international web-based survey.

Dose-response effect of pre-exercise carbohydrates under muscle glycogen unavailability: Insights from McArdle disease.

Recurrent atraumatic compartment syndrome as a manifestation of genetic neuromuscular disease.

Rhabdomyolysis in McArdle disease caused by scuba diving.

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.

Clinical and Laboratory Findings on Glycogen Storage Disease Type V: Results from a Retrospective Observational Study in a Tertiary Hospital.

A first in literature: anesthesia management in kidney transplant surgery of a patient with McArdle disease.

Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation.

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.

Development of Continuum of Care for McArdle disease: A practical tool for clinicians and patients.

[Rhabdomyolysis of rare etiology].

Metabolic Myopathies in the Era of Next-Generation Sequencing.

Valuing Mundane Manifestations of Rare, but Underdiagnosed, Diseases in Portugal: The Example of McArdle Disease.

Atraumatic Acute Paraspinal Compartment Syndrome in a Patient With McArdle's Disease.

Patient-Reported Experiences with a Low-Carbohydrate Ketogenic Diet: An International Survey in Patients with McArdle Disease.

Metabolic adaptations in McArdle's disease and its mechanisms.

An experiment of nature links muscle glycogen unavailability with very high fat oxidation rates despite low aerobic fitness.

Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?

Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology.

Diagnosis and genetic analysis of a case with glycogen storage disease type V caused by compound heterozygous mutations in the PYGM gene.

Muscle glycogen unavailability and fat oxidation rate during exercise: Insights from McArdle disease.

[McArdle's disease in four pediatric patients. Diagnostic algorithm for exercise intolerance].

McArdle disease in a patient with anorexia nervosa: a case report.

Muscle MRI in McArdle Disease: A European Multicenter Observational Study.

Cardiac arrest as a manifestation of unknown Type V glycogenosis: a case report.

Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis.

A novel compound heterozygous mutation in PYGM gene associated with McArdle's disease.

McArdle disease and pregnancy: A case report and scoping review of pregnancy outcomes.

McArdle Disease Rhabdomyolysis Precipitated by Acetazolamide for Idiopathic Intracranial Hypertension.

Long-Term Exercise Intervention in Patients with McArdle Disease: Clinical and Aerobic Fitness Benefits.

High prevalence of paraspinal muscle involvement in adults with McArdle disease.

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.

Rhabdomyolysis Episode in an Individual with McArdle's Disease after Low Aerobic Exercise.

Functional and enzymatic improvement during pregnancy in McArdle's disease.

Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies.

Whole-exome sequencing detects PYGM variants in two adults with McArdle disease.

Whole-body muscle MRI in McArdle disease.

Maximal Multistage Shuttle Run Test-induced Myalgia in a Patient with Muscle Phosphorylase B Kinase Deficiency.

Phenotype and genotype of 197 British patients with McArdle disease: An observational single-centre study.

International patient group harnesses social media to help inform rare disease research: use of a low carbohydrate ketogenic diet in McArdle disease.

The phenotypic and genotypic features of a Scottish cohort with McArdle disease.

[MCARDLE'S DISEASE AND PHYSICAL ACTIVITY - A MIXED BLESSING].

Clinical Presentation and Management of Severe Acute Renal Failure in McArdle Disease.

Muscle Glycogen Phosphorylase and Its Functional Partners in Health and Disease.

Pearls & Oy-sters: Hickam's Dictum in Genetic Myopathies: When a Proven Pathogenic Mutation Does Not Explain the Phenotype.

A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency.

Retinopathy in McArdle Disease.

Biomechanical muscle stiffness measures of extensor digitorum explain potential mechanism of McArdle sign.

When POTS is the tip of the iceberg: Rare cases of dysautonomia as a possible manifestation of another disorder.

Generation of the iPSC line IISHDOi007-A from peripheral blood mononuclear cells from a patient with McArdle disease harbouring the mutation c.2392 T > C; p.Trp798Arg.

McArdle disease presenting as abnormal liver function: biochemical, anatomical and genetic characterisation in the first genetically confirmed Chinese family with a novel splicing variant.

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC).

An elderly diabetic patient with McArdle disease and recurrent rhabdomyolysis: a potential association with late hypoinsulinemia?

Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).

Reference values for the 12 minute walk test in McArdle patients.

Hypercholesterolemia treated with a PCSK9 inhibitor in a patient with ischemic heart disease and McArdle disease.

Results of an open label feasibility study of sodium valproate in people with McArdle disease.

The potential of a ketogenic diet to minimize effects of the metabolic fault in glycogen storage disease V and VII.

PYGM mRNA expression in McArdle disease: Demographic, clinical, morphological and genetic features.

Sex Differences and the Influence of an Active Lifestyle on Adiposity in Patients with McArdle Disease.

The ratio of maximal handgrip force and maximal cycloergometry power as a diagnostic tool to screen for metabolic myopathies.

Exercise efficiency impairment in metabolic myopathies.

No effect of oral sucrose or IV glucose during exercise in phosphorylase b kinase deficiency.

Repeatedly in Rhabdomyolysis.

A thermodynamic function of glycogen in brain and muscle.

Longitudinal case study and phenotypic multimodal characterization of McArdle disease-linked retinopathy: insight into pathomechanisms.

Identification of a novel PYGM mutation in a McArdle disease patient misdiagnosed as hypokalemic periodic paralysis.

Titrating a modified ketogenic diet for patients with McArdle disease: A pilot study.

McArdle disease causing rhabdomyolysis following vaginal delivery.

Exercise therapy for muscle and lower motor neuron diseases.

Physiological aspects of muscular adaptations to training translated to neuromuscular diseases.

Absence of p.R50X Pygm read-through in McArdle disease cellular models.

McArdle Disease: New Insights into Its Underlying Molecular Mechanisms.

The effect of muscle glycogen phosphorylase (Pygm) knockdown on zebrafish morphology.

Liver Glycogen Phosphorylase Deficiency Leads to Profibrogenic Phenotype in a Murine Model of Glycogen Storage Disease Type VI.

Translational Medicine: Exercise Physiology Applied to Metabolic Myopathies.

No effect of triheptanoin on exercise performance in McArdle disease.

Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease.

A new mutation in PYGM causing McArdle disease in a Brazilian patient.

Can hyperuricemia predict glycogen storage disease (McArdle's disease) in rheumatology practice? (Myogenic hyperuricemia).

Pigmentary Changes in the Retina in a Patient with McArdle's Disease.

Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model.

Novel Asp511Thr mutation in McArdle disease with acute kidney injury caused by rhabdomyolysis.

Treatment of a high cardiovascular risk patient with McArdle's disease with PCSK9 inhibitors.

Spondyloarthropathy associated with glycogen storage disease type V mimicking polymyositis.

Muscle diffusion tensor imaging in glycogen storage disease V (McArdle disease).

Cardiac manifestations of McArdle disease.

Total thyroidectomys in patient with McArdle's syndrome: Anesthetic management.

Lack of muscle mTOR kinase activity causes early onset myopathy and compromises whole-body homeostasis.

Single-centre experience on genotypic and phenotypic features of southern Brazilian patients with McArdle disease.

Retinopathy Associated with Biallelic Mutations in PYGM (McArdle Disease).

Mastication and Oral Motor Function in McArdle Disease: Patient Reported Complaints.

RETINAL DYSTROPHY IN A PATIENT WITH McARDLE DISEASE.

Missense mutations have unexpected consequences: The McArdle disease paradigm.

McArdle Disease Presenting With Muscle Pain in a Teenage Girl: The Role of Whole-Exome Sequencing in Neurogenetic Disorders.

Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.

Exercise testing-based algorithms to diagnose McArdle disease and MAD defects.

Label-free identification of myopathological features with coherent anti-Stokes Raman scattering.

Non-osteogenic muscle hypertrophy in children with McArdle disease.

Pre- and peripartal management of a woman with McArdle disease: a case report.

Wave of renal impairment.

Clinical utility gene card for McArdle disease.

Muscle molecular adaptations to endurance exercise training are conditioned by glycogen availability: a proteomics-based analysis in the McArdle mouse model.

Spontaneous Compartment Syndrome in a Patient with McArdle Disease: A Case Report and Review of the Literature.

A New Condition in McArdle Disease: Poor Bone Health-Benefits of an Active Lifestyle.

Multimodal imaging of posterior ocular involvement in McArdle's disease.

Exercising with blocked muscle glycogenolysis: Adaptation in the McArdle mouse.

Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.

211th ENMC International Workshop:: Development of diagnostic criteria and management strategies for McArdle Disease and related rare glycogenolytic disorders to improve standards of care. 17-19 April 2015, Naarden, The Netherlands.

Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease.

Establishment of a human iPSC line (IISHDOi001-A) from a patient with McArdle disease.

PRES leading to the diagnosis of McArdle disease.

Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency.

Successful Electroconvulsive Therapy for a Patient With McArdle Disease.

Metabolic profiles of exercise in patients with McArdle disease or mitochondrial myopathy.

Misdiagnosis is an important factor for diagnostic delay in McArdle disease.

Low versus high carbohydrates in the diet of the world-class athlete: insights from McArdle's disease.

Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia.

McArdle Disease Misdiagnosed as Meningitis.

Muscle fiber type proportion and size is not altered in mcardle disease.

Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease.

Normal activities of AMP-deaminase and adenylate kinase in patients with McArdle disease.

Home-based aerobic exercise training improves skeletal muscle oxidative metabolism in patients with metabolic myopathies.

The McArdle's Mouse Model: Providing Important Insight into Skeletal Muscle Regulation.

Rhabdomyolysis With Acute Renal Failure Requiring Dialysis in McArdle Disease: A Role for the Antidepressant Venlafaxine?

Differential glucose metabolism in mice and humans affected by McArdle disease.

Recurrent Episodes of Rhabdomyolysis after Seizures in a Patient with Glycogen Storage Disease Type V.

Skeletal muscle disorders of glycogenolysis and glycolysis.

A multi-parametric protocol to study exercise intolerance in McArdle's disease.

Muscle Signaling in Exercise Intolerance: Insights from the McArdle Mouse Model.

Differential Muscle Involvement in Mice and Humans Affected by McArdle Disease.

Xanthine Oxidase Pathway and Muscle Damage. Insights from McArdle Disease.

[Anesthesia in a Patient with McArdle Disease].

Recurrent Compartment Syndrome Leading to the Diagnosis of McArdle Disease: Case Report.

Exercise and Preexercise Nutrition as Treatment for McArdle Disease.

Genes and exercise intolerance: insights from McArdle disease.

Rodent models for resolving extremes of exercise and health.

[Glycogen metabolism: skeletal muscle and brain function].

Next-generation sequencing to estimate the prevalence of a great unknown: McArdle disease.

McArdle disease: 2 case reports.

Minimal symptoms in McArdle disease: A real PYGM genotype effect?

Report on the EUROMAC McArdle Exercise Testing Workshop, Madrid, Spain, 11-12 July 2014.

Minimally symptomatic mcardle disease, expanding the genotype-phenotype spectrum.

Lactate and Energy Metabolism During Exercise in Patients With Blocked Glycogenolysis (McArdle Disease).

A rare case of multiple sclerosis and McArdle disease.

McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.

The investigation and management of metabolic myopathies.

Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model.

Sodium valproate increases the brain isoform of glycogen phosphorylase: looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vitro.

Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data.

Diagnostic power of the non-ischaemic forearm exercise test in detecting glycogenosis type V.

[25-year old patient with angina pectoris during religious fasting].