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

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

21 Jan 2019

Abstract excerpt

BACKGROUND: Rare and ultra-rare diseases (URDs) are often chronic and life-threatening conditions that have a profound impact on sufferers and their families, but many are notoriously difficult to detect. Niemann-Pick disease type C (NP-C) serves to illustrate the challenges, benefits and pitfalls associated with screening for ultra-rare inborn errors of metabolism (IEMs). A comprehensive, non-systematic review...

Read the complete abstract on PubMed

Topics

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

Share to Infant Nutrition and Health
Share to Lysosomal Storage Disorders Research
Share to Metabolism and Genetic Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30665446
DOI: 10.1186/s13023-018-0985-1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?PMID 30665446Read ↗

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 ↗

Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical reviewSemantic proximity Read ↗

Niemann-Pick Disease, Type C: Diagnosis, Management and Disease-Targeted Therapies in DevelopmentSemantic proximity Read ↗

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patientsSemantic proximity Read ↗

Genetic and laboratory diagnostic approach in Niemann Pick disease type C.Semantic proximity Read ↗

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

A Review of Multiple Diagnostic Approaches in the Undiagnosed Diseases Network to Identify Inherited Metabolic DiseasesSemantic 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 ↗

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.Semantic proximity Read ↗

Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicineSemantic proximity Read ↗

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.Semantic proximity Read ↗

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