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

Development and validation of a severity scoring system for Zellweger spectrum disorders.

Clinical genetics - 1 Mar 2018

Klouwer F C C, Meester-Delver A, Vaz F M, Waterham H R, Hennekam R C M, Poll-The B T

Abstract excerpt

The lack of a validated severity scoring system for individuals with Zellweger spectrum disorders (ZSD) hampers optimal patient care and reliable research. Here, we describe the development of such severity score and its validation in a large, well-characterized cohort of ZSD individuals. We developed a severity scoring system based on the 14 organs that typically can be affected in ZSD. A standardized and...

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
Share to Disease Management

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Reproducibility of Results

Share to Severity of Illness Index

Share to Young Adult

Share to Zellweger Syndrome

Source

Identifiers

PMID: 28857144
DOI: 10.1111/cge.13130

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Development and validation of a severity scoring system for Zellweger spectrum disorders.PMID 28857144Read ↗

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.Semantic proximity Read ↗

Zellweger spectrum disorders: clinical overview and management approach.Semantic proximity Read ↗

Diagnostic challenges and disease management in patients with a mild Zellweger spectrum disorder phenotype.Semantic proximity Read ↗

IMPAIRMENT OF PEROXISOME BIOGENESIS IN THE SPECTRUM OF ZELLWEGER SYNDROME (CLINICAL CASE).Semantic proximity Read ↗

Phenotypic variability (heterogeneity) of peroxisomal disorders.Semantic proximity Read ↗

Zellweger syndrome and associated phenotypes.Semantic proximity Read ↗

Child Neurology: Zellweger syndromeSemantic proximity Read ↗

Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders.Semantic proximity Read ↗

Elucidation of the pathogenesis of peroxisome biogenesis disorders (PBDs): From molecular mechanisms to diagnosis-therapy linkages and AI-assisted potential.Semantic proximity Read ↗

Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups.Semantic proximity Read ↗

Peroxisomal disorders.Semantic proximity Read ↗

Comprehensive phenotyping of 3q29 deletion syndrome: recommendations for clinical careSemantic proximity Read ↗

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