A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.
about
Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiencyGlycogen metabolism in humansSevere congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutationsClinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia RegistryFunctional Analysis of Mouse G6pc1 Mutations Using a Novel In Situ Assay for Glucose-6-Phosphatase Activity and the Effect of Mutations in Conserved Human G6PC1/G6PC2 Amino Acids on G6PC2 Protein Expression.Esophageal Stricture Secondary to Candidiasis in a Child with Glycogen Storage Disease 1b.Type I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes.Genetic analysis and clinical picture of severe congenital neutropenia in Israel.Glucose-6-Phosphatase Catalytic Subunit 3 (G6PC3) Deficiency Associated With Autoinflammatory Complications.Testicular failure in a patient with G6PC3 deficiency.
P2860
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P2860
A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.
description
2013 nî lūn-bûn
@nan
2013 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
A clinical and molecular revie ...... ncy caused by G6PC3 mutations.
@ast
A clinical and molecular revie ...... ncy caused by G6PC3 mutations.
@en
type
label
A clinical and molecular revie ...... ncy caused by G6PC3 mutations.
@ast
A clinical and molecular revie ...... ncy caused by G6PC3 mutations.
@en
prefLabel
A clinical and molecular revie ...... ncy caused by G6PC3 mutations.
@ast
A clinical and molecular revie ...... ncy caused by G6PC3 mutations.
@en
P2860
P921
P356
P1476
A clinical and molecular revie ...... ncy caused by G6PC3 mutations.
@en
P2860
P2888
P356
10.1186/1750-1172-8-84
P5008
P577
2013-06-13T00:00:00Z
P5875
P6179
1041307826