Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases - Wikidata - awgldk - TriplyDB

Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases

Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases

http://www.wikidata.org/entity/Q28181983

about

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.A splice mutation in the PHKG1 gene causes high glycogen content and low meat quality in pig skeletal muscle Nrf2-Mediated Regulation of Skeletal Muscle Glycogen Metabolism Progress and problems in muscle glycogenoses Diagnostic evaluation of rhabdomyolysis.Rhabdomyolysis: a genetic perspective.PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations.Neuromuscular disorders of glycogen metabolism.Expressed phosphorylase b kinase and its alphagammadelta subcomplex as regulatory models for the rabbit skeletal muscle holoenzyme The investigation and management of metabolic myopathies.glycogen phosphorylase (PYGM) dimer b + 2 ATP => glycogen phosphorylase (PYGM) dimer a + 2 ADP glycogen phosphorylase (PYGL) dimer b + 2 ATP => glycogen phosphorylase (PYGL) dimer a + 2 ADP Glycogen storage diseases: Diagnosis, treatment and outcome

P2860

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P2860

Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases

http://www.wikidata.org/entity/Q28181983

description

2003 nî lūn-bûn

@nan

2003 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2003 թվականի հուլիսին հրատարակված գիտական հոդված

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2003年の論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年论文

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name

Muscle glycogenosis with low p ...... plain only a minority of cases

@ast

Muscle glycogenosis with low p ...... plain only a minority of cases

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Muscle glycogenosis with low p ...... plain only a minority of cases

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type

label

Muscle glycogenosis with low p ...... plain only a minority of cases

@ast

Muscle glycogenosis with low p ...... plain only a minority of cases

@en

Muscle glycogenosis with low p ...... plain only a minority of cases

@nl

prefLabel

Muscle glycogenosis with low p ...... plain only a minority of cases

@ast

Muscle glycogenosis with low p ...... plain only a minority of cases

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Muscle glycogenosis with low p ...... plain only a minority of cases

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P356

SJ.EJHG.5200996

P1433

European Journal of Human Genetics

P1476

Muscle glycogenosis with low p ...... plain only a minority of cases

@en

P2093

Anja Schroers

http://www.w3.org/2001/XMLSchema#string

Bin Hu

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Dieter Pongratz

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Manfred W Kilimann

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Matthias Vorgerd

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Paula R Clemens

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Shimon W Moses

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Yoon S Shin

http://www.w3.org/2001/XMLSchema#string

P2860

Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation

Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB)

Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit

Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans

The proton-linked monocarboxylate transporter (MCT) family: structure, function and regulation

Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II

Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle

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

Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB)

Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R)

P2888

sj.ejhg.5200996

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516-26

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scholarly article

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2167581

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P356

10.1038/SJ.EJHG.5200996

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7

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11

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P50

Barbara Burwinkel

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10692424

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P698

12825073

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