Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Orphanet journal of rare diseases - 11 Feb 2020

Kim Yoo-Mi, Choi Jin-Ho, Lee Beom-Hee, Kim Gu-Hwan, Kim Kyung-Mo, Yoo Han-Wook

Abstract excerpt

BACKGROUND: Glycogen storage disease (GSD) Ia, caused by mutations in the glucose-6-phosphatase (G6PC) gene, is characterized by hepatomegaly, hypoglycemia, lactic acidosis, dyslipidemia, and hyperuricemia. This study aimed to investigate clinical and molecular features and late complications in Korean patients with GSD Ia. RESULTS: Fifty-four Korean patients (33 males and 21 females) from 47 unrelated families,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Glucose-6-Phosphatase
Share to Glycogen Storage Disease Type I

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation

Share to Republic of Korea

Source

Open in PubMed Open full text

Identifiers

PMID: 32046761
DOI: 10.1186/s13023-020-1321-0
PMCID: PMC7014716

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia.PMID 32046761Read ↗

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

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

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 Ia complicated with multiple hepatic adenomas: a case report and literature reviewSemantic proximity Read ↗

Three novel mutations of the G6PC gene identified in Chinese patients with glycogen storage disease type Ia.Semantic proximity Read ↗

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

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

[Hepatic glycogen storage diseases: Symptoms, management and associated mutations].Semantic proximity Read ↗

Clinical Analysis and Long-term Treatment Monitoring of 3 Patients with Glycogen Storage Disease Type IbSemantic proximity Read ↗

Evaluation of Glycogen Storage Patients: Report of Twelve Novel Variants and New Clinical Findings in a Turkish Population.Semantic proximity Read ↗

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

Clinical and genetic spectrum of GSD type 6 in Korea.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.