Disease: Muscular phosphorylase kinase deficiency
- A case of acute renal failure secondary to late-onset McArdle's disease
- A female case of glycogen storage myopathy due to phosphorylase kinase deficiency
- A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency
- A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy
- Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome
- Adult muscle phosphorylase "b" kinase deficiency
- Adult phosphorylase b kinase deficiency
- Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB)
- Changes in glycogen metabolism in hereditary muscular diseases (review)
- Clinical and biochemical analysis of 27 patients with myoglobinuria of unknown causes
- Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency
- Discovery of serum protein biomarkers in the mdx mouse model and cross-species comparison to Duchenne muscular dystrophy patients
- Disorders of glycogen metabolism of muscle
- Exercise intolerance caused by muscular phosphorylase kinase deficiency. Contribution of in vivo metabolic studies
- Fatal infantile glycogen storage disease: deficiency of phosphofructokinase and phosphorylase b kinase
- Glycogen storage diseases of muscle
- Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit
- Late diagnosis of a McArdle disease's case (type V glycogenosis)
- McArdle disease revealed by exercise intolerance associated with severe rhabdomyolysis
- McArdle's syndrome (myopathy in muscle phosphorylase deficiency)
- Metabolic causes of myoglobinuria
- Metabolic causes of recurrent rhabdomyolysis
- Metabolic myopathies
- Metabolic myopathies
- Metabolic myopathies
- Metabolic myopathies in childhood. A review in summarized form
- Muscle biopsy in the evaluation of patients with modestly elevated creatine kinase levels
- Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes
- Muscle phosphofructokinase deficiency
- Muscular phosphorylase deficiency in two siblings
- Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patient
- Myopathic evolution of an exertional muscle pain syndrome with phosphorylase b kinase deficiency
- Myopathies Related to Glycogen Metabolism Disorders
- Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene
- Myopathy due to glycogen storage disease: pathological and biochemical studies in relation to glycogenosome formation
- Neonatal metabolic myopathies
- Phosphorus NMR spectroscopy study of muscular enzyme deficiencies involving glycogenolysis and glycolysis
- Phosphorylase b kinase deficiency in a boy with glycogenosis affecting both liver and muscle
- Practical aspects of myoblast implantation: investigations on two inherited myopathies in animals
- Substrate kinetics in patients with disorders of skeletal muscle metabolism
- The biochemical and structural maturation of human skeletal muscle cells in culture: the effect of the serum substitute Ultroser G
- The clinical diagnosis of McArdle's disease. Identification of another family with deficiency of muscle phosphorylase
- Vacuolar myopathies in adults with myalgias: value of paraspinal muscle investigation
- X-linked glycogen storage disease. A cause of hypotonia, hyperuricemia, and growth retardation