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

Mucolipidosis type IV: a subtle pediatric neurodegenerative disorder.

Pediatric neurology - 1 Mar 2010

Geer Joseph S, Skinner Steve A, Goldin Ehud, Holden Kenton R

Abstract excerpt

The mucolipidoses are a heterogeneous group of autosomal recessive neurodegenerative lysosomal storage disorders. Mucolipidosis type IV is rare; it is seen predominantly in the Ashkenazi Jewish population and usually presents with global neurodevelopmental delays in infancy, subtle corneal opacif...

Read the complete abstract on PubMed

Topics

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

Share to CpG Islands
Share to Jews
Share to Magnetic Resonance Imaging

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mucolipidoses

Share to Mutation, Missense

Share to Neurodegenerative Diseases

Share to Transient Receptor Potential Channels

Share to TRPM Cation Channels

Source

Open in PubMed Open full text

Identifiers

PMID: 20159435
DOI: 10.1016/j.pediatrneurol.2009.10.002
PMCID: PMC2824620

Genes

MCOLN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20159435-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mucolipidosis type IV: a subtle pediatric neurodegenerative disorder.PMID 20159435Read ↗

Mucolipidosis IV: A milder form with novel mutations and serial MRI findings.Semantic proximity Read ↗

A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV.Semantic proximity Read ↗

Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV-A Review and Case Series.Semantic proximity Read ↗

Mucolipidosis type IV.Semantic proximity Read ↗

A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child.Semantic proximity Read ↗

Mucolipidosis type IV in a Turkish boy associated with a novel MCOLN1 mutation.Semantic proximity Read ↗

Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations.Semantic proximity Read ↗

The molecular basis of mucolipidosis type IV.Semantic proximity Read ↗

Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin.Semantic proximity Read ↗

Mucolipidosis type IV in a child.Semantic proximity Read ↗

The neurogenetics of mucolipidosis type IV.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 ↗

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