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

The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Apr 2017

Kasapkara Çiğdem Seher, Aycan Zehra, Açoğlu Esma, Senel Saliha, Oguz Melek Melahat, Ceylaner Serdar

Abstract excerpt

BACKGROUND: Glycogen synthase deficiency, also known as glycogenosis (GSD) type 0 is an inborn error of glycogen metabolism caused by mutations in the GYS2 gene, which is transmitted in an autosomal recessive trait. It is a rare form of hepatic glycogen storage disease with less than 30 cases reported in the literature so far. The disorder is characterized by fasting hyperketotic hypoglycemia without...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glycogen Storage Disease

Share to Glycogen Synthase

Share to Infant

Share to Phenotype

Share to Prognosis

Source

Identifiers

PMID: 28245189
DOI: 10.1515/jpem-2016-0317

Genes

GYS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency.PMID 28245189Read ↗

The variable clinical phenotype of liver glycogen synthase deficiency.Semantic proximity Read ↗

A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0.Semantic proximity Read ↗

A patient with glycogen storage disease type 0 and a novel sequence variant in GYS2: a case report and literature review.Semantic proximity Read ↗

Mutational analysis of the GYS2 gene in patients diagnosed with ketotic hypoglycaemia.Semantic proximity Read ↗

Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.Semantic proximity Read ↗

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

Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations.Semantic proximity Read ↗

[Glycogen storage syndrome type 0 caused by GYS2 gene variation and phenotypic differences between two siblings].Semantic proximity Read ↗

[Case of diagnostics of a rare form of glycogen disease].Semantic proximity Read ↗

Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability.Semantic proximity Read ↗

Novel variants in Turkish patients with glycogen storage disease.Semantic proximity Read ↗

Recurrent pancreatitis and sepsis in glycogen storage disease type Ia caused by complex heterozygous mutations in 2 sisters: Case report.Semantic proximity Read ↗

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