Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.
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The glucose-6-phosphatase systemGlycogen storage disease type I and G6Pase-β deficiency: etiology and therapyA potential role for muscle in glucose homeostasis: in vivo kinetic studies in glycogen storage disease type 1a and fructose-1,6-bisphosphatase deficiencyGlycogen storage disease type Ia in canines: a model for human metabolic and genetic liver diseaseGuidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I).Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage diseaseGlycogen Storage Disease type 1a - a secondary cause for hyperlipidemia: report of five cases.Glycogen storage disease type I in Tunisia: an epidemiological analysis.Evidence for high-capacity bidirectional glucose transport across the endoplasmic reticulum membrane by genetically encoded fluorescence resonance energy transfer nanosensors.Molecular basis of congenital neutropenia.Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and IbGlycogen storage disease type I: diagnosis and phenotype/genotype correlation.Molecular analysis of glycogen storage disease type Ia in Iranian Azeri Turks: identification of a novel mutation.Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I).
P2860
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P2860
Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.
description
2000 nî lūn-bûn
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2000 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի մայիսին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
@yue
2000年論文
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2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Glycogen storage disease type ...... veloped diagnostic flow chart.
@ast
Glycogen storage disease type ...... veloped diagnostic flow chart.
@en
type
label
Glycogen storage disease type ...... veloped diagnostic flow chart.
@ast
Glycogen storage disease type ...... veloped diagnostic flow chart.
@en
prefLabel
Glycogen storage disease type ...... veloped diagnostic flow chart.
@ast
Glycogen storage disease type ...... veloped diagnostic flow chart.
@en
P2093
P356
P1476
Glycogen storage disease type ...... veloped diagnostic flow chart.
@en
P2093
A M ten Berge
K E Niezen-Koning
P2888
P304
P356
10.1007/S004310051281
P577
2000-05-01T00:00:00Z
P5875
P6179
1000588259