Article

Analyzing the Distribution of Mutations for Glycogen Storage Disease Type 1a in Turkey and Suggested Gene Therapy Methods for Its Treatment

2020-09-30

Abstract excerpt

One of the rare diseases throughout the world is Glycogen Storage Disease, which appears due to problems in glycogen metabolism. Among various subtypes of GSD, GSD Type 1a is the most abundant one of GSD Type 1, seen in approximately 80% and caused by different kinds of mutations in the Glucose-6-Phosphatase Catalytic Subunit (G6PC) gene in human chromosome 17q21. G6PC gene encodes for glucose-6-phosphatase (G6Pas...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 5323b565-a956-56b0-8813-4b5ff8be0656
DOI: 10.20944/preprints202009.0723.v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Analyzing the Distribution of Mutations for Glycogen Storage Disease Type 1a in Turkey and Suggested Gene Therapy Methods for Its TreatmentDOI 10.20944/preprints202009.0723.v1Read

Clinical, laboratory and molecular features of glycogen storage disease type 1a and 1b patients from Turkey: novel mutations and phenotypes.Semantic proximity Read

Glycogen storage disease type I: Genetic etiology, clinical manifestations, and conventional and gene therapiesSemantic proximity Read

Identification of mutations that causes glucose-6-phosphate transporter defect in Tunisian patients with glycogenosis type 1bSemantic proximity Read

Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b).Semantic proximity Read

Mutational analysis and clinical investigations of medically diagnosed GSD 1a patients from Pakistan.Semantic proximity Read

Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing.Semantic proximity Read

Molecular analysis of glycogen storage disease type Ia in Iranian Azeri Turks: identification of a novel mutation.Semantic proximity Read

[Genetic and clinical characteristics of 26 cases with glycogen storage disease type Ⅲ].Semantic proximity Read

Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX.Semantic proximity Read

Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia.Semantic proximity Read

Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia.Semantic proximity Read

Genotypic and clinical analysis of 49 Chinese children with hepatic glycogen storage diseases.Semantic proximity Read