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

[Molecular analysis of IDS gene and prenatal diagnosis in a Chinese family with mucopolysaccharidosis type II].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Feb 2009

Jia Bei, Xue Jin-jie, Liang De-sheng, Wu Ling-qian

Abstract excerpt

OBJECTIVE: Mucopolysaccharidosis type II (MPSII) is a lethal, X-linked recessive disorder caused by mutation of iduronate-2-sulfatase (IDS) gene. Up to now there is no really effective treatment for this disorder, therefore it is important to provide an accurate genetic diagnosis and prenatal diagnosis for the MPSII families. In this study, we identify the pathogenic mutation in a Chinese family with MPSII....

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Child
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family

Share to Iduronate Sulfatase

Share to Mucopolysaccharidosis II

Share to Pregnancy

Share to Prenatal Diagnosis

Source

Identifiers

PMID: 19573456

Genes

IDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

[Molecular analysis of IDS gene and prenatal diagnosis in a Chinese family with mucopolysaccharidosis type II].PMID 19573456Read ↗

[Genetic analysis and prenatal diagnosis of a Chinese pedigree affected with mucopolysaccharidosis type II due to deletion of exon 2 of IDS gene].Semantic proximity Read ↗

[Analysis of IDS gene mutation in a family affected with mucopolysaccharidosis typeⅡ].Semantic proximity Read ↗

[Identification of a novel mutation of IDS gene from a Chinese pedigree with MPS II].Semantic proximity Read ↗

[Detection of a new mutation (G1253T) of iduronate-2-sulfatase gene for the patient with mucopolysaccharidosis type II].Semantic proximity Read ↗

[Mutation analysis of mucopolysaccharidosis type II and prenatal diagnosis].Semantic proximity Read ↗

[Prenatal diagnosis of mucopolysaccharidosis type II].Semantic proximity Read ↗

[Detection of a new mutation (1343-TT) in the iduronate-2-sulfatase gene from a Chinese patient with mucopolysaccharidosis type II].Semantic proximity Read ↗

[Identification of a novel splicing variant of IDS gene in a pedigree affected with type II glycosaminoglycan product storage disease].Semantic proximity Read ↗

A novel mutation of IDS gene in a Chinese patient with mucopolysaccharidosis II by next-generation sequencing.Semantic proximity Read ↗

[Mutation analysis and prenatal diagnosis of 2 cases with mucopolysaccharidosis type I].Semantic proximity Read ↗

[Detection of two novel mutations of iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II].Semantic proximity Read ↗

[The detection of the frequent mutations of iduronate-2-sulphatase gene in mucopolysaccharidosis type II patients in Chinese].Semantic proximity Read ↗

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