Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene (Q34224330)

31 July 2017

title

Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene (English)

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31 July 2017

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1

Barbara Burwinkel

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author name string

Terje Rootwelt

2

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31 July 2017

Eli Anne Kvittingen

3

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Pranesh K Chakraborty

4

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31 July 2017

Manfred W Kilimann

5

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31 July 2017

language of work or name

English

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publication date

20 August 2003

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31 July 2017

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volume

54

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31 July 2017

issue

6

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31 July 2017

page(s)

834-839

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

31 July 2017

cites work

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https://api.crossref.org/works/10.1203%2F01.PDR.0000088069.09275.10

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000088069.09275.10

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000088069.09275.10

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000088069.09275.10

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000088069.09275.10

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000088069.09275.10

Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000088069.09275.10

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000088069.09275.10

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

21 January 2018

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The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients

21 January 2018

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Bones benefit from better biochemical control in type 1 glycogen storage disease

21 January 2018

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Low bone mass in glycogen storage disease type 1 is associated with reduced muscle force and poor metabolic control

21 January 2018

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Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance.

21 January 2018

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A screening method for liver glycogen diseases

21 January 2018

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[92] Phosphorylase b kinase from rabbit muscle

21 January 2018

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The calmodulin-binding domain of the catalytic gamma subunit of phosphorylase kinase interacts with its inhibitory alpha subunit: evidence for a Ca2+ sensitive network of quaternary interactions

21 January 2018

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Protein kinase catalytic domain sequence database: identification of conserved features of primary structure and classification of family members

21 January 2018

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Mutational analyses in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1

21 January 2018

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Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis

21 January 2018

1 reference

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Clinical and laboratory observations in a child with hepatic phosphorylase kinase deficiency

21 January 2018

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10.1203/01.PDR.0000088069.09275.10

21 January 2018

Identifiers

DOI

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Dimensions Publication ID

31 July 2017

1017016875

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