• A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease
• A diagnostic algorithm for metabolic myopathies
• A multi-parametric protocol to study exercise intolerance in McArdle's disease
• A phase 1/pilot study of radiofrequency ablation for the treatment of recurrent pediatric solid tumors
• A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia
• Acute recurrent rhabdomyolysis in a Chinese boy associated with a novel compound heterozygous LPIN1 variant: a case report
• Acute Renal Failure with Severe Loin Pain and Patchy Renal Ischemia after Anaerobic Exercise in Active Duty Marines
• Adult-onset carnitine palmitoyl transferase II (CPT II) deficiency presenting with rhabdomyolysis and acute kidney injury
• An adolescent girl with Meyer-Betz syndrome
• An ignored cause of red urine in children: rhabdomyolysis due to carnitine palmitoyltransferase II (CPT-II) deficiency
• Anti-retrovirals and immunosuppressive drug interactions in a HIV-positive patient after liver transplantation
• Atorvastatin as a Rare Primary Cause of Drug-Induced Angioedema: A Case Report
• Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation
• Carnitin-Palmitoyl Transferase type 2 deficiency: a rare cause of acute renal failure due to rhabdomyolysis
• Carnitine palmitoyl transferase deficiency--unrecognized cause of recurrent acute kidney injury
• Carnitine palmitoyl transferase II deficiency in an adolescent presenting with rhabdomyolysis and acute renal failure
• Carnitine Palmitoyltransferase II Deficiency (CPT II) Followed By Rhabdomyolysis and Acute Kidney Injury
• Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports
• Case 251: Nontraumatic Drug-associated Rhabdomyolysis of Head and Neck Muscles
• Case 4: Recurrent Orange Urine and Abdominal Pain in a 13-year-old Boy
• Case Report: The first probable Hong Kong Chinese case of <em>LPIN1</em>-related acute recurrent rhabdomyolysis in a boy with two novel variants
• Case Report: The first probable Hong Kong Chinese case of LPIN1-related acute recurrent rhabdomyolysis in a boy with two novel variants
• Clinical and biochemical heterogeneity in an Italian family with CPT II deficiency due to Ser 113 Leu mutation
• Clinical and molecular characterization of McArdle's disease in Brazilian patients
• Clinics in diagnostic imaging (179). Severe rhabdomyolysis complicated by myonecrosis
• Coexistence of VHL Disease and CPT2 Deficiency: A Case Report
• Combined HIIT and Resistance Training in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: A Case Report
• Definitive percutaneous treatment of lymphatic malformations of the trunk and extremities
• Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy
• Diagnostic challenges in metabolic myopathies
• Disorders of fatty acid oxidation
• Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases
• Emotionally-intense situations can result in rhabdomyolysis in McArdle disease
• Episodes of exercise-induced dark urine and myalgia in LGMD 2I
• Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation
• Exercise-induced acute renal failure in a trainee cyclist without hypouricemia: Successful athletic career post-treatment
• Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency
• Fever, Fasting, and Rhabdomyolysis in an Adult Male
• Genetic analysis of ryanodine receptor 1 gene and carnitine palmitoyltransferase II gene: an autopsy case of neuroleptic malignant syndrome related to vegetamin
• Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency
• Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry
• High cut-off renal replacement therapy for removal of myoglobin in severe rhabdomyolysis and acute kidney injury: a case series
• Homozygous female Becker muscular dystrophy
• Human CoQ10 deficiencies
• Importance of acylcarnitine profile analysis for disorders of lipid metabolism in adolescent patients with recurrent rhabdomyolysis: Report of two cases
• Intronic mutation in the PGK1 gene may cause recurrent myoglobinuria by aberrant splicing
• Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency
• Juvenile-Onset Recurrent Rhabdomyolysis Due to Compound Heterozygote Variants in the <em>ACADVL</em> Gene
• Juvenile-Onset Recurrent Rhabdomyolysis Due to Compound Heterozygote Variants in the ACADVL Gene
• Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish
• Management and outcome of benign acute childhood myositis in pediatric emergency department
• McArdle Disease Misdiagnosed as Meningitis
• McArdle disease: the mutation spectrum of PYGM in a large Italian cohort
• McArdle's disease presenting as recurrent cryptogenic renal failure due to occult seizures
• Metabolic Myoglobinuria
• Metabolic neuropathies and myopathies
• Mitochondrial myopathies
• Molecular analysis of LPIN1 in Jordanian patients with rhabdomyolysis
• Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood
• Myoglobinuria in boys with Duchenne muscular dystrophy on corticosteroid therapy
• Myoglobinuria masquerading as acute rejection in a renal allograft recipient with recurrent post transplant diabetic nephropathy
• Myopathic Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Rare Cause of Acute Kidney Injury and Cardiomyopathy
• Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations
• Myxedema Psychosis: Neuropsychiatric Manifestations and Rhabdomyolysis Unmasking Hypothyroidism
• Necrotizing vacuolar myopathy presenting with recurrent myoglobinuria
• Neuromuscular Manifestations in Mitochondrial Diseases in Children
• Neuron-specific knockdown of Drosophila HADHB induces a shortened lifespan, deficient locomotive ability, abnormal motor neuron terminal morphology and learning disability
• NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia
• Novel mutations in myopathic form of carnitine palmitoyltransferase II deficiency in a Chinese patient
• Novel mutations in the <em>HADHB</em> gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency
• Percutaneous treatment of lymphatic malformations
• Postinfectious Rhabdomyolysis in a 5-Year-Old Boy: When to Look a Little Deeper
• Pseudometabolic presentation of dystrophinopathy due to a missense mutation
• Recurrent episodes of myoglobinuria, mental retardation and seizures but no hemolysis in two brothers with phosphoglycerate kinase deficiency
• Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2
• Recurrent episodic acute kidney injury as presenting manifestation of mitochondrial myopathy
• Recurrent episodic myoglobinuric acute kidney injury as presenting manifestation of idiopathic polymyositis
• Recurrent Myalgia since Early Infancy-Misleading Clinical Course in a Child with Carnitine Palmitoyltransferase-II Deficiency
• Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene
• Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: clinical, biochemical, and genetic features of adult-onset cases
• Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNA(Ile) mutation
• Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency
• Recurrent rhabdomyolysis and myoglobinuric acute renal failure in a patient with polymyositis
• Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt
• Repeatedly in Rhabdomyolysis
• Rhabdomyolysis
• Rhabdomyolysis
• Rhabdomyolysis after heterotopic ossification: an unusual complication in a spinal cord injured patient
• Rhabdomyolysis and Cardiomyopathy in a 20-Year-Old Patient with CPT II Deficiency
• Rhabdomyolysis caused by carnitine palmitoyltransferase 2 deficiency: A case report and systematic review of the literature
• Rhabdomyolysis featuring muscular dystrophies
• Rhabdomyolysis: a genetic perspective
• Rhabdomyolysis: an evaluation of 475 hospitalized patients
• Rhabdomyolysis: review of the literature
• The effect of dantrolene sodium in Very Long Chain Acyl-CoA Dehydrogenase Deficiency
• The pathology of torture
• Unrecognized High Occurrence of Genetically Confirmed Hereditary Carnitine Palmitoyltransferase II Deficiency in an Austrian Family Points to the Ongoing Underdiagnosis of the Disease
• Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis
• Very-Long-Chain Acyl-Co-Enzyme A Dehydrogenase Deficiency Presenting as Rhabdomyolysis: First Case Report from Sri Lanka
• Whole-exome sequencing detects <em>PYGM</em> variants in two adults with McArdle disease