Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases (Q28181983)

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scientific article (publication date: July 2003)

Language	Label	Description	Also known as
English	Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases	scientific article (publication date: July 2003)

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scholarly article

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

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Barbara Burwinkel

1

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author name string

Bin Hu

2

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Anja Schroers

3

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Paula R Clemens

4

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Shimon W Moses

5

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Yoon S Shin

6

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Dieter Pongratz

7

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Matthias Vorgerd

8

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Manfred W Kilimann

9

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language of work or name

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publication date

July 2003

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European Journal of Human Genetics

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11

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7

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516-26

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Glycogen storage myopathies

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

Adult phosphorylase b kinase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

Fatal infantile glycogen storage disease: deficiency of phosphofructokinase and phosphorylase b kinase.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

Infantile muscle phosphorylase-b-kinase deficiency. A case report

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

Fetal-onset severe skeletal muscle glycogenosis associated with phosphorylase-b kinase deficiency.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

Human cDNA encoding the muscle isoform of the phosphorylase kinase gamma subunit (PHKG1)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

A B2 repeat insertion generates alternate structures of the mouse muscle gamma-phosphorylase kinase gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

Structure of the human gene encoding the phosphorylase kinase beta subunit (PHKB).

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

A mutation in PRKAG3 associated with excess glycogen content in pig skeletal muscle

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

Localisation of the gene encoding the catalytic gamma subunit of phosphorylase kinase to human chromosome bands 7p12-q21

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

Role of plasma membrane transporters in muscle metabolism.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

Impaired Energy Homeostasis in C/EBPα Knockout Mice

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

Mice with a deletion in the gene for CCAAT/enhancer-binding protein beta have an attenuated response to cAMP and impaired carbohydrate metabolism.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

Overexpression of protein targeting to glycogen in cultured human muscle cells stimulates glycogen synthesis independent of glycogen and glucose 6-phosphate levels

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

Neural regulation of the formation of skeletal muscle phosphorylase kinase holoenzyme in adult and developing rat muscle

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

Expression of three nonallelic genes coding calmodulin exhibits similar localization on the central nervous system of adult rats

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

21 January 2018

Myopathic evolution of an exertional muscle pain syndrome with phosphorylase b kinase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

7 January 2021

based on heuristic

inferred from DOI database lookup

Adult-onset exercise intolerance due to phosphorylase b kinase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

7 January 2021

based on heuristic

inferred from DOI database lookup

Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

7 January 2021

based on heuristic

inferred from DOI database lookup

Myopathy due to glycogen storage disease: pathological and biochemical studies in relation to glycogenosome formation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

7 January 2021

based on heuristic

inferred from DOI database lookup

Fatal arthrogryposis with respiratory insufficiency: a possible case of muscle phosphorylase b-kinase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

7 January 2021

based on heuristic

inferred from DOI database lookup

A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

7 January 2021

based on heuristic

inferred from DOI database lookup

Diagnosis of glycogen storage disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation analysis in myophosphorylase deficiency (McArdle's disease)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

7 January 2021

based on heuristic

inferred from DOI database lookup

Glycogen branching enzyme deficiency in adult polyglucosan body disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

7 January 2021

based on heuristic

inferred from DOI database lookup

The gamma phosphorylase kinase gene, Phkg, maps to mouse chromosome 5 near Gus

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200996

7 January 2021

based on heuristic

inferred from DOI database lookup

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