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

Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database.

BMC neurology - 15 Dec 2015

Imrie Jackie, Heptinstall Lesley, Knight Stephen, Strong Kate

Abstract excerpt

BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare neurovisceral lipid storage disorder characterised by progressive, disabling neurological symptoms and premature death in most patients. During the last decade, national cohort studies have accrued a great deal of data on the symptomatology and natural history of NP-C. METHODS: In an observational cohort study, we present a substantial update based on the...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Glycoproteins
Share to Intracellular Signaling Peptides and Proteins

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

Share to Membrane Glycoproteins

Share to Niemann-Pick C1 Protein

Share to Niemann-Pick Disease, Type C

Share to United Kingdom

Share to Vesicular Transport Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 26666848
DOI: 10.1186/s12883-015-0511-1
PMCID: PMC4678528

Genes

NPC1
NPC2

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database.PMID 26666848Read ↗

Clinical disease characteristics of patients with Niemann-Pick Disease Type C – findings from the International Niemann-Pick Disease Registry (INPDR)Semantic proximity Read ↗

Disease and patient characteristics in NP-C patients: findings from an international disease registry.Semantic proximity Read ↗

The natural history of Niemann–Pick disease type C in the UKSemantic proximity Read ↗

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

Recent Advances in the Diagnosis and Treatment of Niemann-Pick Disease Type C in Children: A Guide to Early Diagnosis for the General PediatricianSemantic proximity Read ↗

At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years.Semantic proximity Read ↗

The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic diseaseSemantic proximity Read ↗

Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study Semantic proximity Read ↗

Genetic and phenotypic variability in adult patients with Niemann Pick type C from Serbia: single-center experience.Semantic proximity Read ↗

Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?Semantic proximity Read ↗

Niemann-Pick diseases.Semantic proximity Read ↗

Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study.Semantic proximity Read ↗

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