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

Sodium taurocholate cotransporter polypeptide deficiency combined with novel PYGL mutations in glycogen storage disease type VI: a rare case report.

Clinics and research in hepatology and gastroenterology - 1 Apr 2026

Wang Meifen, Wang Mingying, Li Juan, Chen Rui, Bi Zhongrui, Jiang Hongchao, Li Jiwei

Abstract excerpt

Both Sodium Taurocholate Cotransporting Polypeptide Deficiency (NTCPD) and Glycogen Storage Disease Type VI (GSD-VI) are autosomal recessive (AR) genetic disorders that affect liver metabolism in newborns. NTCPD is primarily caused by mutations in the Solute Carrier Family 10 Member 1 (SLC10A1) gene, resulting in decreased bile acid transport function, while GSD-VI is caused by mutations in the phosphorylase...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to AR gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Organic Anion Transporters, Sodium-Dependent

Share to Symporters

Source

Identifiers

PMID: 41775331
DOI: 10.1016/j.clinre.2026.102801

Genes

PYGL
AR
SLC10A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Sodium taurocholate cotransporter polypeptide deficiency combined with novel PYGL mutations in glycogen storage disease type VI: a rare case report.PMID 41775331Read ↗

Glycogen storage disease type VI with a novel PYGL mutation: Two case reports and literature review.Semantic proximity Read ↗

Glycogen Storage Disease Type VI With a Novel Mutation in PYGL Gene.Semantic proximity Read ↗

Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports.Semantic proximity Read ↗

The Phenotypic and Genetic Spectrum of Glycogen Storage Disease Type VI.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 ↗

Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review.Semantic proximity Read ↗

Glycogen Storage Diseases: A Brief Review and Update on Clinical Features, Genetic Abnormalities, Pathologic Features, and TreatmentSemantic 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 ↗

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

Report of an Iranian child with chronic abdominal pain and constipation diagnosed as glycogen storage disease type IX: a case report.Semantic proximity Read ↗

Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.Semantic proximity Read ↗

Novel sequence of PHKG2 mutation associated with first case of glycogen storage disease type IXc in Syria: a case reportSemantic proximity Read ↗

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