Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.
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Glycogen metabolism in humansInvestigation and management of the hepatic glycogen storage diseasesA splice mutation in the PHKG1 gene causes high glycogen content and low meat quality in pig skeletal muscleClinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly.Rhabdomyolysis: a genetic perspective.Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease.Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency.Development of diagnostic SCAR markers for genomic DNA amplifications in breast carcinoma by DNA cloning of high-GC RAMP-PCR fragments
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P2860
Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 19 December 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Variability of disease spectru ...... y mutations in the PHKG2 gene.
@en
Variability of disease spectru ...... y mutations in the PHKG2 gene.
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type
label
Variability of disease spectru ...... y mutations in the PHKG2 gene.
@en
Variability of disease spectru ...... y mutations in the PHKG2 gene.
@nl
prefLabel
Variability of disease spectru ...... y mutations in the PHKG2 gene.
@en
Variability of disease spectru ...... y mutations in the PHKG2 gene.
@nl
P2093
P2860
P1476
Variability of disease spectru ...... y mutations in the PHKG2 gene.
@en
P2093
Anne Boney
Avihu Boneh
Catherine Rehder
David A Weinstein
Deeksha S Bali
Jennifer L Goldstein
Keri Fredrickson
Priya S Kishnani
Richard Lutz
Stephanie Austin
P2860
P304
P356
10.1016/J.YMGME.2013.12.008
P577
2013-12-19T00:00:00Z