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Acidosis, Lactic
Bioenergetics of intact human muscle. A 31P nuclear magnetic resonance study.
Acute Kidney Injury
Enhanced proteolytic activity--cause of protein catabolism in acute renal failure.
Acute Kidney Injury
Evidence for the participation of proteases on protein catabolism during hypercatabolic renal failure.
Acute Kidney Injury
In vitro inhibition of protein catabolism by alpha 2-macroglobulin in plasma from a patient with posttraumatic acute renal failure.
Alzheimer Disease
Phosphoprotein phosphatase activities in Alzheimer disease brain.
Bradycardia
Fetal bradycardia at 28 weeks of gestation associated with cardiac glycogen phosphorylase b kinase deficiency.
carboxypeptidase t deficiency
Metabolic causes of myoglobinuria.
Carcinoma, Hepatocellular
Glycogen storage in a hepatoma: dephosphophosphorylase kinase defect.
Carcinoma, Hepatocellular
Salt-inducible Kinase 3 Signaling Is Important for the Gluconeogenic Programs in Mouse Hepatocytes.
Cardiomyopathies
Infantile hypertrophic cardiomyopathy of glycogenosis type IX: isolated cardiac phosphorylase kinase deficiency.
Cardiomyopathy, Hypertrophic
Fatal infantile hypertrophic cardiomyopathy secondary to deficiency of heart specific phosphorylase b kinase.
Cardiomyopathy, Hypertrophic
Infantile hypertrophic cardiomyopathy of glycogenosis type IX: isolated cardiac phosphorylase kinase deficiency.
Colorectal Neoplasms
Phosphorylase kinase ? affects colorectal cancer cell growth and represents a novel prognostic biomarker.
Cystic Fibrosis
Peptide microarray analysis of substrate specificity of the transmembrane Ser/Thr kinase KPI-2 reveals reactivity with cystic fibrosis transmembrane conductance regulator and phosphorylase.
Diabetes Mellitus, Type 2
An evaluation of indirubin analogues as phosphorylase kinase inhibitors.
Diabetes Mellitus, Type 2
Kinetics, in silico docking, molecular dynamics, and MM-GBSA binding studies on prototype indirubins, KT5720, and staurosporine as phosphorylase kinase ATP-binding site inhibitors: The role of water molecules examined.
Diabetes Mellitus, Type 2
Kinetics, in silico docking, molecular dynamics, and MM-GBSA binding studies on prototype indirubins, KT5720, and staurosporine as phosphorylase kinase ATP-binding site inhibitors: the role of water molecules examined.
Fanconi Syndrome
A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.
glycogen phosphorylase deficiency
Genetic deficiencies of the glycogen phosphorylase system.
Glycogen Storage Disease
3D mapping of glycogenosis-causing mutations in the large regulatory alpha subunit of phosphorylase kinase.
Glycogen Storage Disease
A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.
Glycogen Storage Disease
A new type of glycogen storage disease caused by deficiency of cardiac phosphorylase kinase.
Glycogen Storage Disease
A novel PHKA2 gross deletion mutation in a Korean patient with X-linked liver glycogenosis type I.
Glycogen Storage Disease
A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review.
Glycogen Storage Disease
An evaluation of indirubin analogues as phosphorylase kinase inhibitors.
Glycogen Storage Disease
An unusual case of recurrent episodes of muscle weakness: Co-occurrence of Andersen-Tawil syndrome and glycogen storage disease type IXd.
Glycogen Storage Disease
Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).
Glycogen Storage Disease
cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis.
Glycogen Storage Disease
Characterization of liver GSD IX ?2 pathophysiology in a novel Phkg2-/- mouse model.
Glycogen Storage Disease
Clinical and laboratory observations in a child with hepatic phosphorylase kinase deficiency.
Glycogen Storage Disease
Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly.
Glycogen Storage Disease
Detection of glycogen in a glycogen storage disease by 13C nuclear magnetic resonance.
Glycogen Storage Disease
Families with X-linked liver glycogenosis due to phosphorylase kinase deficiency.
Glycogen Storage Disease
Fanconi's syndrome with hepatorenal glycogenosis associated with phosphorylase b kinase deficiency.
Glycogen Storage Disease
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.
Glycogen Storage Disease
Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase.
Glycogen Storage Disease
Fatal infantile glycogen storage disease: deficiency of phosphofructokinase and phosphorylase b kinase.
Glycogen Storage Disease
Fatal infantile hypertrophic cardiomyopathy secondary to deficiency of heart specific phosphorylase b kinase.
Glycogen Storage Disease
Genetic deficiencies of the glycogen phosphorylase system.
Glycogen Storage Disease
Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type VI glycogen-storage disease. A study of phosphorylase kinase deficiency.
Glycogen Storage Disease
Glycogen storage disease confined to the heart with deficient activity of cardiac phosphorylase kinase: a new type of glycogen storage disease.
Glycogen Storage Disease
Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency.
Glycogen Storage Disease
Glycogen storage disease type IX: High variability in clinical phenotype.
Glycogen Storage Disease
Glycogen storage disease. Studies related to the mechanism of glycogenosome formation.
Glycogen Storage Disease
Glycogenosis due to liver and muscle phosphorylase kinase deficiency.
Glycogen Storage Disease
Human cDNA encoding the muscle isoform of the phosphorylase kinase gamma subunit (PHKG1).
Glycogen Storage Disease
Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit.
Glycogen Storage Disease
Identification of Alu-mediated, large deletion-spanning introns 19-26 in PHKA2 in a patient with X-linked liver glycogenosis (hepatic phosphorylase kinase deficiency).
Glycogen Storage Disease
In situ 13C NMR quantification of hepatic glycogen.
Glycogen Storage Disease
Infantile hypertrophic cardiomyopathy of glycogenosis type IX: isolated cardiac phosphorylase kinase deficiency.
Glycogen Storage Disease
Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency.
Glycogen Storage Disease
Liver glycogenosis and phosphorylase kinase deficiency.
Glycogen Storage Disease
Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis.
Glycogen Storage Disease
Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2).
Glycogen Storage Disease
Loss of cyclic 3'5'-AMP dependent kinase and reduction of phosphorylase kinase in skeletal muscle of a girl with deactivated phosphorylase and glycogenosis of liver and muscle.
Glycogen Storage Disease
Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22.
Glycogen Storage Disease
Metabolic myopathies.
Glycogen Storage Disease
Molecular diagnosis of glycogen storage disease type IX using a glycogen storage disease gene panel.
Glycogen Storage Disease
Molecular genetics of phosphorylase kinase: cDNA cloning, chromosomal mapping and isoform structure.
Glycogen Storage Disease
Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.
Glycogen Storage Disease
Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?
Glycogen Storage Disease
Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).
Glycogen Storage Disease
Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease.
Glycogen Storage Disease
Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.
Glycogen Storage Disease
Myopathy due to glycogen storage disease: pathological and biochemical studies in relation to glycogenosome formation.
Glycogen Storage Disease
Novel mutations in PHKA2 gene in glycogen storage disease type IX patients from Hong Kong, China.
Glycogen Storage Disease
Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.
Glycogen Storage Disease
PHKG2 mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature.
Glycogen Storage Disease
Phosphorylase b kinase deficiency glycogenosis with cirrhosis of the liver.
Glycogen Storage Disease
Phosphorylase b kinase deficiency in a boy with glycogenosis affecting both liver and muscle.
Glycogen Storage Disease
Phosphorylase b kinase deficiency in glycogenosis type VIII: differentiation of different phenotypes and heterozygotes by erythrocyte enzyme assay.
Glycogen Storage Disease
Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform.
Glycogen Storage Disease
Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance.
Glycogen Storage Disease
Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R)
Glycogen Storage Disease
Phosphorylase kinase in leukocytes and erythrocytes of a patient with glycogen storage disease type IX.
Glycogen Storage Disease
Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB).
Glycogen Storage Disease
Regional mapping of a liver alpha-subunit gene of phosphorylase kinase (PHKA) to the distal region of human chromosome Xp.
Glycogen Storage Disease
The behavior of hepatic phosphorylase b kinase, phosphorylase a and b after administration of glucagon to patients with glycogen storage disease type VIa.
Glycogen Storage Disease
The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients.
Glycogen Storage Disease
Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease.
Glycogen Storage Disease
Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene.
Glycogen Storage Disease
Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene.
Glycogen Storage Disease
Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.
Glycogen Storage Disease
X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency.
Glycogen Storage Disease
X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase.
Glycogen Storage Disease
X-linked liver glycogenosis: localization and isolation of a candidate gene.
Glycogen Storage Disease
[A case of glycogen storage myopathy with acute heart failure]
Glycogen Storage Disease
[Genetic heterogeneity and the diagnosis of hepatic glycogenoses]
Glycogen Storage Disease
[Molecular pathology of hepatic glycogen storage disease]
Glycogen Storage Disease Type II
Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form.
Glycogen Storage Disease Type II
X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase.
Glycogen Storage Disease Type IV
Glycogen storage disease. Studies related to the mechanism of glycogenosome formation.
Glycogen Storage Disease Type V
Genetic deficiencies of the glycogen phosphorylase system.
Glycogen Storage Disease Type V
Substrate kinetics in patients with disorders of skeletal muscle metabolism.
Hepatomegaly
Adult phosphorylase b kinase deficiency.
Hepatomegaly
Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency.
Hepatomegaly
Discovery of a Genetic Metabolic Cause for Mauriac Syndrome in Type 1 Diabetes.
Hepatomegaly
Uncooked cornstarch treatment for hepatic phosphorylase kinase deficiency.
Hepatomegaly
Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene.
Hyperlipidemias
Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency.
Hyperthyroidism
Mechanisms of enhanced phosphorylase activation in the hyperthyroid rat heart.
Hypoglycemia
Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency.
Hypoglycemia
PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only.
Hypoglycemia
Phosphorylase b kinase deficiency glycogenosis with cirrhosis of the liver.
Hypoglycemia
Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene.
Hypothyroidism
Phosphorylase a formation in protein-glycogen particles isolated from fast-twitch muscle of euthyroid and hypothyroid rats.
Liver Cirrhosis
Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene.
Liver Cirrhosis
Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene.
Liver Neoplasms
Phosphorylase Kinase ? Represents a Novel Prognostic Biomarker and Inhibits Malignant Phenotypes of Liver Cancer Cell.
Melanoma
Preliminary Study: Proteomic Profiling Uncovers Potential Proteins for Biomonitoring Equine Melanocytic Neoplasm.
Muscle Cramp
A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency.
Muscle Cramp
Adult phosphorylase b kinase deficiency.
Muscle Cramp
Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.
Muscle Weakness
A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency.
Muscular Diseases
A female case of glycogen storage myopathy due to phosphorylase kinase deficiency.
Muscular Diseases
A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency.
Muscular Diseases
A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy.
Muscular Diseases
Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency.
Muscular Diseases
Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene.
Muscular Diseases
Myopathy due to glycogen storage disease: pathological and biochemical studies in relation to glycogenosome formation.
Muscular Diseases
Phosphorylase kinase activities in damaged mouse skeletal muscles.
Myalgia
A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency.
Myalgia
Myopathic evolution of an exertional muscle pain syndrome with phosphorylase b kinase deficiency.
Myoglobinuria
A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency.
Myoglobinuria
Metabolic causes of myoglobinuria.
Myoglobinuria
Metabolic myopathies.
Myoglobinuria
Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.
Neoplasms
An evaluation of indirubin analogues as phosphorylase kinase inhibitors.
Neoplasms
Identification of phosphorylase kinase as a novel therapeutic target through high-throughput screening for anti-angiogenesis compounds in zebrafish.
Neoplasms
KIAA1199 interacts with glycogen phosphorylase kinase ?-subunit (PHKB) to promote glycogen breakdown and cancer cell survival.
Neoplasms
Urinary signatures of Renal Cell Carcinoma investigated by peptidomic approaches.
Pancreatitis, Acute Necrotizing
Evidence for the participation of proteases on protein catabolism during hypercatabolic renal failure.
Pancreatitis, Chronic
Evidence for the participation of proteases on protein catabolism during hypercatabolic renal failure.
phosphoglycerate kinase deficiency
Metabolic causes of myoglobinuria.
phosphoglycerate mutase deficiency
Metabolic causes of myoglobinuria.
phosphorylase kinase deficiency
A female case of glycogen storage myopathy due to phosphorylase kinase deficiency.
phosphorylase kinase deficiency
Adult phosphorylase b kinase deficiency.
phosphorylase kinase deficiency
Adult-onset exercise intolerance due to phosphorylase b kinase deficiency.
phosphorylase kinase deficiency
Alkalinization of phosphorylase kinase-deficient muscle during tetanic contraction.
phosphorylase kinase deficiency
Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).
phosphorylase kinase deficiency
Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2).
phosphorylase kinase deficiency
Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB).
phosphorylase kinase deficiency
Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency.
phosphorylase kinase deficiency
Biochemical diagnosis of hepatic glycogen storage diseases: 20 years French experience.
phosphorylase kinase deficiency
cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis.
phosphorylase kinase deficiency
Characterization of the phosphorylase b to a converting activity in skeletal muscle extracts of mice with the phosphorylase b kinase deficiency mutation.
phosphorylase kinase deficiency
Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency.
phosphorylase kinase deficiency
Clinical and laboratory observations in a child with hepatic phosphorylase kinase deficiency.
phosphorylase kinase deficiency
Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency.
phosphorylase kinase deficiency
Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.
phosphorylase kinase deficiency
Comparison of the mechanism of isoproterenol-stimulated glycogenolysis in skeletal muscle of normal and phosphorylase kinase-deficient mice (I strain).
phosphorylase kinase deficiency
Detection of glycogen in a glycogen storage disease by 13C nuclear magnetic resonance.
phosphorylase kinase deficiency
Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency.
phosphorylase kinase deficiency
Dinucleotide repeat polymorphism within the PHKA1 gene at Xq12-q13.
phosphorylase kinase deficiency
Enzymatic analysis in lymphocytes and erythrocytes from six patients with different phenotypes of phosphorylase kinase deficiency.
phosphorylase kinase deficiency
Factor XI and phosphorylase b kinase deficiency.
phosphorylase kinase deficiency
Families with X-linked liver glycogenosis due to phosphorylase kinase deficiency.
phosphorylase kinase deficiency
Fanconi's syndrome with hepatorenal glycogenosis associated with phosphorylase b kinase deficiency.
phosphorylase kinase deficiency
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.
phosphorylase kinase deficiency
Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase.
phosphorylase kinase deficiency
Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency.
phosphorylase kinase deficiency
Fetal bradycardia at 28 weeks of gestation associated with cardiac glycogen phosphorylase b kinase deficiency.
phosphorylase kinase deficiency
Fueling around with glycogen: the implications of muscle phosphorylase b kinase deficiency.
phosphorylase kinase deficiency
Genetic deficiencies of the glycogen phosphorylase system.
phosphorylase kinase deficiency
Glucose homeostasis during the perinatal period in normal rats and rats with a glycogen storage disorder.
phosphorylase kinase deficiency
Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type VI glycogen-storage disease. A study of phosphorylase kinase deficiency.
phosphorylase kinase deficiency
Glycogen phosphorylase b kinase deficiency in three siblings.
phosphorylase kinase deficiency
Glycogen phosphorylase kinase deficiency: a survey of enzymes in phosphorylase activating system.
phosphorylase kinase deficiency
Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency.
phosphorylase kinase deficiency
Glycogen storage disease. Studies related to the mechanism of glycogenosome formation.
phosphorylase kinase deficiency
Glycogen storage disease: clinical, biochemical, and molecular heterogeneity.
phosphorylase kinase deficiency
Glycogen-storage disease associated with phosphorylase kinase deficiency: evidence for X inactivation.
phosphorylase kinase deficiency
Glycogenolysis in liver of phosphorylase kinase-deficient rats during liver perfusion and ischaemia.
phosphorylase kinase deficiency
Glycogenosis due to liver and muscle phosphorylase kinase deficiency.
phosphorylase kinase deficiency
Hepatic phosphorylase b kinase deficiency with normal enzyme activity in erythrocytes and muscle.
phosphorylase kinase deficiency
Hepatic phosphorylase b kinase deficiency with normal enzyme activity in leukocytes and erythrocytes.
phosphorylase kinase deficiency
Hepatic phosphorylase b kinase deficiency with normal enzyme activity in leukocytes.
phosphorylase kinase deficiency
Hepatic phosphorylase kinase deficiency: a survey of phosphorylase kinase activity in erythrocytes.
phosphorylase kinase deficiency
Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit.
phosphorylase kinase deficiency
I/Lyn mouse phosphorylase kinase deficiency: mutation disrupts expression of the alpha/alpha'-subunit mRNAs.
phosphorylase kinase deficiency
In situ 13C NMR quantification of hepatic glycogen.
phosphorylase kinase deficiency
Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency.
phosphorylase kinase deficiency
Infantile hypertrophic cardiomyopathy of glycogenosis type IX: isolated cardiac phosphorylase kinase deficiency.
phosphorylase kinase deficiency
Isolation and sequence analysis of a cDNA clone encoding the entire catalytic subunit of phosphorylase kinase.
phosphorylase kinase deficiency
Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency.
phosphorylase kinase deficiency
Liver glycogenosis and phosphorylase kinase deficiency.
phosphorylase kinase deficiency
Liver glycogenosis caused by a defective phosphorylase system: hemolysate analysis.
phosphorylase kinase deficiency
Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis.
phosphorylase kinase deficiency
Localisation of the gene encoding the catalytic gamma subunit of phosphorylase kinase to human chromosome bands 7p12-q21.
phosphorylase kinase deficiency
Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2).
phosphorylase kinase deficiency
Lymphocyte phosphorylase kinase activities in the sex-linked form of liver phosphorylase kinase deficiency.
phosphorylase kinase deficiency
Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22.
phosphorylase kinase deficiency
Mapping of the phosphorylase kinase alpha subunit gene on the mouse X chromosome.
phosphorylase kinase deficiency
Metabolic adaptation in phosphorylase kinase deficiency. Changes in metabolite concentrations during tetanic stimulation of mouse leg muscles.
phosphorylase kinase deficiency
Metabolic causes of myoglobinuria.
phosphorylase kinase deficiency
Metabolic causes of recurrent rhabdomyolysis.
phosphorylase kinase deficiency
Molecular genetics of phosphorylase kinase: cDNA cloning, chromosomal mapping and isoform structure.
phosphorylase kinase deficiency
Muscle phosphorylase b kinase deficiency revisited.
phosphorylase kinase deficiency
Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?
phosphorylase kinase deficiency
Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).
phosphorylase kinase deficiency
Mutational analyses in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1.
phosphorylase kinase deficiency
Myopathic evolution of an exertional muscle pain syndrome with phosphorylase b kinase deficiency.
phosphorylase kinase deficiency
Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene.
phosphorylase kinase deficiency
Myopathy due to glycogen storage disease: pathological and biochemical studies in relation to glycogenosome formation.
phosphorylase kinase deficiency
Neonatal-onset severe recurrent hypoglycaemia in an infant with hepatic phosphorylase kinase deficiency with normal enzyme activity in erythrocytes.
phosphorylase kinase deficiency
No effect of oral sucrose or IV glucose during exercise in phosphorylase b kinase deficiency.
phosphorylase kinase deficiency
Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form.
phosphorylase kinase deficiency
PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only.
phosphorylase kinase deficiency
Phosphorylase b kinase deficiency glycogenosis with cirrhosis of the liver.
phosphorylase kinase deficiency
Phosphorylase b kinase deficiency in a boy with glycogenosis affecting both liver and muscle.
phosphorylase kinase deficiency
Phosphorylase b kinase deficiency in glycogenosis type VIII: differentiation of different phenotypes and heterozygotes by erythrocyte enzyme assay.
phosphorylase kinase deficiency
Phosphorylase b kinase deficiency in man: a review.
phosphorylase kinase deficiency
Phosphorylase kinase deficiency and decreased fat accumulation in hybrid male mice (I X C3H).
phosphorylase kinase deficiency
Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform.
phosphorylase kinase deficiency
Phosphorylase kinase deficiency in mice.
phosphorylase kinase deficiency
Phosphorylase kinase deficiency.
phosphorylase kinase deficiency
Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance.
phosphorylase kinase deficiency
Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene.
phosphorylase kinase deficiency
Skeletal muscle glycogen content, structure, and metabolism are normal in rats with hepatic glycogen phosphorylase kinase deficiency.
phosphorylase kinase deficiency
Skeletal muscle phosphorylase kinase deficiency: detection of a protein lacking any activity in ICR-IAn mice.
phosphorylase kinase deficiency
Stimulation of glycogenolysis by beta adrenergic agonists in skeletal muscle of mice with the phosphorylase kinase deficiency mutation (I strain).
phosphorylase kinase deficiency
Substrate kinetics in patients with disorders of skeletal muscle metabolism.
phosphorylase kinase deficiency
The autosomal form of phosphorylase kinase deficiency in man: reduced activity of the muscle enzyme.
phosphorylase kinase deficiency
The effect of ethanol on glucose production in phosphorylase b kinase deficiency.
phosphorylase kinase deficiency
The molecular basis of skeletal muscle phosphorylase kinase deficiency.
phosphorylase kinase deficiency
The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients.
phosphorylase kinase deficiency
The phosphorylase kinase activity of hearts from phosphorylase kinase-deficient mice.
phosphorylase kinase deficiency
The phosphorylase kinase deficiency (Phk) locus in the mouse: evidence that the mutant allele codes for an enzyme with an abnormal structure.
phosphorylase kinase deficiency
The phosphorylation of troponin B by phosphorylase b kinase in skeletal muscle of mice carrying the phosphorylase b kinase deficiency gene.
phosphorylase kinase deficiency
Uncooked cornstarch treatment for hepatic phosphorylase kinase deficiency.
phosphorylase kinase deficiency
Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease.
phosphorylase kinase deficiency
Use of platelets, mononuclear and polymorphonuclear cells in the diagnosis of glycogen storage disease type VI.
phosphorylase kinase deficiency
Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene.
phosphorylase kinase deficiency
Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.
phosphorylase kinase deficiency
X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency.
phosphorylase kinase deficiency
X-linked dominant inheritance of partial phosphorylase kinase deficiency in mice.
phosphorylase kinase deficiency
X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.
phosphorylase kinase deficiency
[Exercise intolerance caused by muscular phosphorylase kinase deficiency. Contribution of in vivo metabolic studies]
phosphorylase kinase deficiency
[Five cases of phosphorylase b kinase deficiency affecting muscle or liver: clinical symptoms and diagnosis]
phosphorylase kinase deficiency
[Glycogenesis due to adult phosphorylase kinase deficiency]
phosphorylase kinase deficiency
[Molecular pathology of hepatic glycogen storage disease]
phosphorylase kinase deficiency
[Phosphorylase b kinase deficiency]
phosphorylase kinase deficiency
[Regulation of glycogen metabolism in the liver and hepatic glycogenosis due to phosphorylase system deficiency]
Psoriasis
An evaluation of indirubin analogues as phosphorylase kinase inhibitors.
Psoriasis
Drug-induced suppression of phosphorylase kinase activity correlates with resolution of psoriasis as assessed by clinical, histological and immunohistochemical parameters.
Psoriasis
Elevated phosphorylase kinase activity in psoriatic epidermis: correlation with increased phosphorylation and psoriatic activity.
pullulanase deficiency
The molecular background of glycogen metabolism disorders.
Renal Insufficiency
Evidence for the participation of proteases on protein catabolism during hypercatabolic renal failure.
Renal Insufficiency
Proteolytic activity in patients with hypercatabolic renal failure.
Respiratory Insufficiency
In vitro inhibition of protein catabolism by alpha 2-macroglobulin in plasma from a patient with posttraumatic acute renal failure.
Starvation
Effect of starvation on glycogen and glucose metabolism in different areas of the rat brain.
Starvation
Starvation of phosphorylase kinase deficient rats is accompanied by partial hepatic glycogen depletion.
Starvation
The association of phosphorylase kinase with membranes of rat liver smooth endoplasmic reticulum.
Uremia
Role of proteases in hypercatabolic patients with renal failure.
Whooping Cough
Synthetic peptides based on the calmodulin-binding domain of myosin light chain kinase inhibit activation of other calmodulin-dependent enzymes.
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2.7.11.19 phosphorylase kinase
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The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable). 
