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

Genotype-phenotype correlation and founder effect analysis in southeast Chinese patients with sialidosis type I.

Orphanet journal of rare diseases - 30 Sept 2024

Du Yi-Chu, Ma Ling-Han, Li Quan-Fu, Ma Yin, Dong Yi, Wu Zhi-Ying

Abstract excerpt

BACKGROUND: Sialidosis type 1 (ST-1) is a rare autosomal recessive disorder caused by mutation in the NEU1 gene. However, limited reports on ST-1 patients in the Chinese mainland are available. METHODS: This study reported the genetic and clinical characteristics of 10 ST-1 patients from southeastern China. A haplotype analysis was performed using 21 single nucleotide polymorphism (SNP) markers of 500 kb flanking...

Read the complete abstract on PubMed

Topics

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

Share to China
Share to East Asian People
Share to Founder Effect

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Haplotypes

Share to Infant

Share to Mucolipidoses

Share to Neuraminidase

Source

Open in PubMed Open full text

Identifiers

PMID: 39350194
DOI: 10.1186/s13023-024-03378-5
PMCID: PMC11443879

Genes

NEU1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotype-phenotype correlation and founder effect analysis in southeast Chinese patients with sialidosis type I.PMID 39350194Read ↗

Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1.Semantic proximity Read ↗

Progressive myoclonic ataxia as an initial symptom of typical type I sialidosis with NEU1 mutation.Semantic proximity Read ↗

Type 1 Sialidosis Patient With a Novel Deletion Mutation in the NEU1 Gene: Case Report and Literature ReviewSemantic proximity Read ↗

Genetic Insights and Clinical Implications of NEU1 Mutations in SialidosisSemantic proximity Read ↗

Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 geneSemantic proximity Read ↗

First report of two Taiwanese siblings with sialidosis type I: a 10-year follow-up study.Semantic proximity Read ↗

In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization.Semantic proximity Read ↗

Molecular pathology of NEU1 gene in sialidosis.Semantic proximity Read ↗

Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review.Semantic proximity Read ↗

Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvementSemantic proximity Read ↗

A novel spot mutation leading to sialidosis type 1-myoclonus syndrome and optical coherence tomography findings.Semantic proximity Read ↗

Founder Mutation p.C421F in SLC12A3 Underlies the High Prevalence of Gitelman Syndrome in the Yi Population of ChinaSemantic proximity Read ↗

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