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

Niemann-Pick type C disease with a novel intronic mutation: three Turkish cases from the same family.

Journal of pediatric endocrinology & metabolism : JPEM - 26 Apr 2022

Kılıç Yıldırım Gonca, Yarar Coşkun, Şeker Yılmaz Berna, Ceylaner Serdar

Abstract excerpt

OBJECTIVES: Niemann-Pick type C (NPC) disease is a rare progressive neurodegenerative condition that is characterized by the accumulation of cholesterol, glycosphingolipids, and sphingosine in lysosomes. Patients have various systemic and neurological findings depending on their age at onset. This disease is caused by the autosomal recessive transmission of mutations in the NPC1 and NPC2 genes; patients have...

Read the complete abstract on PubMed

Topics

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

Share to Cholesterol
Share to Exons
Share to Introns

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

Share to Mutation

Share to Niemann-Pick C1 Protein

Share to Niemann-Pick Disease, Type C

Share to Turkey

Source

Identifiers

PMID: 34883004
DOI: 10.1515/jpem-2021-0052

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

Niemann-Pick type C disease with a novel intronic mutation: three Turkish cases from the same family.PMID 34883004Read ↗

Niemann-Pick diseases.Semantic proximity Read ↗

Niemann-Pick disease type C: analysis of 7 patients.Semantic proximity Read ↗

Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C.Semantic proximity Read ↗

Whole-exome sequencing analysis to identify novel potential pathogenetic NPC1 mutations in two Chinese families with Niemann-Pick disease type C.Semantic proximity Read ↗

The adult form of Niemann-Pick disease type C.Semantic proximity Read ↗

Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.Semantic proximity Read ↗

Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?Semantic proximity Read ↗

Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature.Semantic proximity Read ↗

Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature.Semantic proximity Read ↗

The unique case of the Niemann-Pick type C cholesterol storage disorder.Semantic proximity Read ↗

Niemann-Pick type C disease: Case report and review of the literature.Semantic proximity Read ↗

New variants in Spanish Niemann-Pick type c disease patients.Semantic proximity Read ↗

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