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

Comparing the efficacy of cipaglucosidase alfa plus miglustat with alglucosidase alfa for late-onset Pompe disease: an expanded network meta-analysis utilizing patient-level and aggregate data.

Statins in Genetic Myopathies: A Retrospective Analysis of Safety and Tolerability.

Water Extract of Polygonati Rhizoma Ameliorates Obesity-Related Skeletal Muscle Atrophy in Mice and C2C12 Myotubes.

Myopathy and ataxia related to impaired mitochondrial function in mevalonate kinase deficiency.

A Pediatric Case of Stiff-Person Syndrome: Presentation and Comparative Analysis.

Urinary glucose tetrasaccharide tracks disease activity in late-onset Pompe disease.

Molecular Mechanisms and Therapeutic Potential of DJ-1 in Skeletal Muscle Homeostasis and Disease.

EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemia.

Insights into immunogenicity and therapeutic strategies to mitigate the immune response in infantile-onset Pompe disease: a comprehensive systematic literature review.

Etoposide-Associated Severe Rhabdomyolysis in a Patient with Diffuse Large B-Cell Lymphoma: A case report and review of the literature.

Influence of a 12 week at-home resistance exercise program on 13C-glucose metabolism in patients with metabolic myopathies.

Diagnostic Value of Muscle Biopsy for the Evaluation of Adult Myopathy in Daily Clinical Practice.

Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Clinical Features, Diagnostic Challenges, and the Role of Oxidative Stress in Pathophysiology.

Multiomics Integration Reveals a Metabolic Myopathy in Cardiometabolic HFpEF.

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

Late-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm.

Loss of adenylosuccinate synthetase 1 in mice recapitulates features of ADSS1 myopathy.

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

National diagnostic gaps for TK2 Deficiency in Italy: insights from the AIM Multicenter Survey.

Causes of Death and Comorbidities in Adult Patients With Late-Onset Pompe Disease: A French Pompe Registry Retrospective Study.

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

A novel XPNPEP3 gene variant manifesting as rhabdomyolysis and exercise intolerance.

Marked Improvements in Airway Abnormalities and Multifaceted Outcomes After 2 Years Switching to Avalglucosidase Alfa: Evaluation of A 19-Year-Old Male Diagnosed With Late-Onset Pompe Disease.

McLeod syndrome mimicking mitochondrial myopathy due to a novel in-frame duplication in the XK gene.

Searching for Clues in the Diagnosis of McArdle Disease.

A Rare Case of Myasthenia Gravis With Underlying Aldolase A Deficiency: Diagnostic and Therapeutic Challenges.

Impact of individualized and supervised strength training on muscle physiology, metabolic control and quality of life in metabolic myopathies.

Limb-girdle muscular dystrophy type 2Y with cardiac involvement in a 23-year-old woman: a case report.

Severe rhabdomyolysis in an infant due to fatty acid oxidation disorder: a case report.

A Case of Adult-Onset VLCAD Deficiency.

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

Exploring the use of the National Institutes of Health Toolbox Cognition Battery with children and adolescents with Pompe disease: Preliminary findings.

Camptocormia as a feature of Mc Ardle's disease: A case report.

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

2-[18F] FDG PET/CT in Rapid Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report.

Health-Related Quality of Life and Fatigue in Children with Pompe Disease.

Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era.

Phenotypic variability in congenital myasthenic syndrome with GFPT1 mutation.

The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).

Effectiveness of Respiratory Muscle Training in Pompe Disease: A Systematic Review and Meta-Analysis.

Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian 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.

Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.

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

A Phosphaturic Mesenchymal Tumor Presenting as Reversible Metabolic Myopathy.

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

Evaluation of Neuromuscular Diseases and Complaints by Quantitative Muscle MRI.

The utility of electrodiagnostic testing in unprovoked rhabdomyolysis in the era of next-generation sequencing.

Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition.

Establishing how much improvement in lung function and distance walked is clinically important for adult patients with Pompe disease.

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

The impact of COVID-19 infection, the pandemic and its associated control measures on patients with Pompe disease.

Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion.

Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form.

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

GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing.

Α rare case of myopathy, lactic acidosis, and severe rhabdomyolysis, due to a homozygous mutation of the ferredoxin-2 (FDX2) gene.

NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.

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

Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions.

[Rhabdomyolysis of rare etiology].

Diagnosis and management of metabolic myopathies.

Speech Disorders in Children With Pompe Disease: Articulation, Resonance, and Voice Measures.

Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing.

Primary mitochondrial disease as a rare cause of unclear breathlessness and distinctive performance degradation - a case report.

Association between changes in pulmonary function and in patient reported outcomes during enzyme therapy of adult patients with late-onset Pompe disease.

Skeletal Muscle Bioenergetics in Critical Limb Ischemia and Diabetes.

Anaesthetic implications for Pompe disease. A case description.

High diagnostic yield of targeted next-generation sequencing panel as a first-tier molecular test for the patients with myopathy or muscular dystrophy.

Infantile-onset Pompe disease in seven Mexican children.

Secondary myoadenylate deaminase deficiency is not a common feature of inflammatory myopathies: A descriptive study.

Diffusion tensor imaging of the brain in Pompe disease.

Medium-chain Acyl-COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment.

Anoctamin 5 (ANO5) Muscle Disorders: A Narrative Review.

Safety of COVID-19 vaccines in children with inborn errors of metabolism in terms of developing metabolic decompensation.

Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism.

A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centre.

[Late onset Pompe disease: an analysis of 19 patients from Mexico].

Crohn's Disease Presenting as Metabolic Myopathy: A Case Report.

A new phenotype of muscle glycogen synthase deficiency (GSD0B) characterized by an adult onset myopathy without cardiomyopathy.

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

Approach to the diagnosis of metabolic myopathies.

Case Report: Identification of Compound Heterozygous Mutations in a Patient With Late-Onset Glycogen Storage Disease Type II (Pompe Disease).

Statin-associated immune-mediated necrotizing myositis in Native Americans.

Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies.

Lipid-storage myopathy with glycogen storage disease gene mutations mimicking polymyositis: a case report and review of the literature.

Skeletal muscle MiR-210 expression is associated with mitochondrial function in peripheral artery disease patients.

Bioimpedance Phase Angle as a Prognostic Tool in Late-Onset Pompe Disease: A Single-Centre Prospective Study With a 15-year Follow-Up.

Mild disease course of SARS-CoV-2 infections and mild side effects of vaccination in Pompe disease: a cohort description.

No effect of resveratrol on fatty acid oxidation or exercise capacity in patients with fatty acid oxidation disorders: A randomized clinical cross-over trial.

A Quantitative Proteomics Approach to Gain Insight into NRF2-KEAP1 Skeletal Muscle System and Its Cysteine Redox Regulation.

Energy metabolism during exercise in patients with β-enolase deficiency (GSDXIII).

Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory.

Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy.

Function, structure and quality of striated muscles in the lower extremities in patients with late onset Pompe Disease-an MRI study.

Diagnostic yield of muscle biopsy in infants: Retrospective analysis of clinical and histopathologic findings.

SARS-CoV-2 may unravel metabolic myopathy mistaken for myasthenia.

A systematic review of late-onset and very-late-onset multiple acyl-coenzyme A dehydrogenase deficiency: Cohort analysis and patient report from Taiwan.

Effect of long term enzyme replacement therapy in late onset Pompe disease: A single-centre experience.

Acute Renal Failure Secondary to an Unusual Familial Metabolic Myopathy.

Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.

Very-Long-Chain Acyl-Co-Enzyme A Dehydrogenase Deficiency Presenting as Rhabdomyolysis: First Case Report from Sri Lanka.

Unique Transcriptome Signature Distinguishes Patients With Heart Failure With Myopathy.

Positive association between physical outcomes and patient-reported outcomes in late-onset Pompe disease: a cross sectional study.

Cellular prion protein dysfunction in a prototypical inherited metabolic myopathy.

A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies.

Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD).

Lipin-1 Deficiency-Associated Recurrent Rhabdomyolysis and Exercise-Induced Myalgia Persisting into Adulthood: A Case Report and Review of Literature.

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

Impaired lipolysis in propionic acidemia: A new metabolic myopathy?

Variants in HNRNPDL and SETX Not Necessarily Indicate Familial Amyotrophic Lateral Sclerosis or Limb Girdle Muscular Dystrophy 1G in Acute Muscular Respiratory Failure.

Update Review about Metabolic Myopathies.

Neutral lipid storage disease with myopathy presenting asymmetrical muscle weakness: a case report.

MEHP interferes with mitochondrial functions and homeostasis in skeletal muscle cells.

Fever, Fasting, and Rhabdomyolysis in an Adult Male.

Mitochondrial Structure and Function in the Metabolic Myopathy Accompanying Patients with Critical Limb Ischemia.

Diagnosis and Care of Infants and Children with Pompe Disease.

Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families.

Statin-Related Myotoxicity: A Comprehensive Review of Pharmacokinetic, Pharmacogenomic and Muscle Components.

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

[Follow-up study in German Hunting Terrier dogs with exercise induced metabolic myopathy].

McArdle Disease: New Insights into Its Underlying Molecular Mechanisms.

The need for biochemical testing in beta-enolase deficiency in the genomic era.

Growth and differentiation factor 15 as a biomarker for mitochondrial myopathy.

Restoring the regenerative balance in neuromuscular disorders: satellite cell activation as therapeutic target in Pompe disease.

Late-onset Pompe disease manifests in the brain.

Early-age Ndufs4 knockout mice are an inappropriate animal model of Leigh syndrome.

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

Loss of RNA-Binding Protein Sfpq Causes Long-Gene Transcriptopathy in Skeletal Muscle and Severe Muscle Mass Reduction with Metabolic Myopathy.

Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa.

HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing.

Phenotypic expression of POLG1 variants is highly heterogeneous.

A Hemizygous Deletion Within the PGK1 Gene in Males with PGK1 Deficiency.

Leigh-like syndrome with mild mtDNA depletion due to the SUCLG1 variant c.626C > T.

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

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

Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease.

Follow-up analysis of voice quality in patients with late-onset Pompe disease.

Resistance Exercise Training in McArdle Disease: Myth or Reality?

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.

Dilative arteriopathy in Pompe disease may not only affect the cerebral arteries.

Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports.

Cardiac outcome in classic infantile Pompe disease after 13 years of treatment with recombinant human acid alpha-glucosidase.

A new AMPK activator, GSK773, corrects fatty acid oxidation and differentiation defect in CPT2-deficient myotubes.

FDG PET/CT of Metabolic Myopathy With Posttreatment Follow-up.

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.

Enzymatic replacement therapy in patients with late-onset Pompe disease - 6-Year follow up.

Enzyme replacement therapy reduces the risk for wheelchair dependency in adult Pompe patients.

Oxidative stress and antioxidant treatment in patients with peripheral artery disease.

Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy.

Patients with neutral lipid storage disease with myopathy (NLSDM) in Southwestern China.

A Nonsense Variant in the ACADVL Gene in German Hunting Terriers with Exercise Induced Metabolic Myopathy.

Wave of renal impairment.

Metabolic myopathies: a practical approach.

[Rhabdomyolysis - may it be a metabolic myopathy? Case report and diagnostic algorithm].

Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.

AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease.

De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy.

Fatty acid oxidation defects presenting as primary myopathy and prominent dropped head syndrome.

Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIa.

Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency.

Bortezomib-Induced Muscle Toxicity in Multiple Myeloma.

Screening for late-onset Pompe disease in western Denmark.

Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?

Psoriasis, bulbar involvement, and diarrhea in late myoclonic epilepsy with ragged-red fibers-syndrome due to the m.8344A > G tRNA (Lys) mutation.

GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells.

Multisystem Disease, Including Eosinophilia and Progressive Hyper-Creatine-Kinase-emia over 10 Years, Suggests Mitochondrial Disorder.

Skeletal muscle metabolism during prolonged exercise in Pompe disease.

Mutations in GMPPB Presenting with Pseudometabolic Myopathy.

Mitochondrial Bioenergetics in the Metabolic Myopathy Accompanying Peripheral Artery Disease.

Histopathologic and Biochemical Evidence for Mitochondrial Disease Among 279 Patients with Severe Statin Myopathy.

Clinical Analysis of Algerian Patients with Pompe Disease.

Adult-onset Pompe's disease presenting with insidious hypercapnic respiratory failure.

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

Clinical, histopathological and metabolic responses following exercise in Arabian horses with a history of exertional rhabdomyolysis.

Phosphoglycerate mutase deficiency (glycogen storage disease X) caused by a novel variant in PGAM-M.

Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders.

Malingering and Factitious Disorder (Münchausen-syndrome) can be Mitochondrial.

Cross-sectional retrospective study of muscle function in patients with glycogen storage disease type III.

Analysis of voice quality in patients with late-onset Pompe disease.

Quantification of Diaphragm Mechanics in Pompe Disease Using Dynamic 3D MRI.

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

Anesthetic management of 877 pediatric patients undergoing muscle biopsy for neuromuscular disorders: a 20-year review.

Metabolic myopathy facilitating the development of Takotsubo syndrome.

Causes of creatine kinase levels greater than 1000 IU/L in patients referred to rheumatology.

Muscle imaging data in late-onset Pompe disease reveal a correlation between the pre-existing degree of lipomatous muscle alterations and the efficacy of long-term enzyme replacement therapy.

Primary hyperparathyroidism: A changing scenario in India.

Recurrent episodes of myoglobinuria, mental retardation and seizures but no hemolysis in two brothers with phosphoglycerate kinase deficiency.

Oncocytoma and noncompaction in metabolic myopathy.

[Application of targeted capture technology and next generation sequencing in molecular diagnosis of inherited myopathy].

Pompe disease: Shared and unshared features of lysosomal storage disorders.

Reverse fiber type disproportion: A distinct metabolic myopathy.

Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease.

[Telephone enquiries on the topic of malignant hyperthermia: Evaluation of the content and subsequent diagnostic results at the MH Center Leipzig].

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.