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

[Analysis of ARSA mutations in a Chinese family with metachromatic leukodystrophy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2006

Wang Jing-min, Jiang Yu-wu, Shi Hui-ping, Zhang Wei-min, Pan Hong, Bao Xin-hua, Wu Ye, Qin Jiong, Wu Xi-ru

Abstract excerpt

OBJECTIVE: To identify arylsulftase A gene (ARSA) mutations in a Chinese family with MLD. METHODS: There were two MLD patients in the investigated family. The proband, an 11-year-old girl, was well until the age of 5 years, when she began to experience difficult walking and mental regression. Magnetic resonance imaging (MRI) of her brain showed widespread demyelination, nerve conduction velocity reduced, and ASA...

Read the complete abstract on PubMed

Topics

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

Share to Cerebroside-Sulfatase
Share to China

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Family Health

Share to Heterozygote

Share to Leukodystrophy, Metachromatic

Share to Magnetic Resonance Imaging

Share to Pedigree

Source

Identifiers

PMID: 16883521

Genes

ARSA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Analysis of ARSA mutations in a Chinese family with metachromatic leukodystrophy].PMID 16883521Read ↗

Two siblings with metachromatic leukodystrophy caused by a novel identified homozygous mutation in the ARSA gene.Semantic proximity Read ↗

[Molecular analysis of Japanese patients with metachromatic leukodystrophy].Semantic proximity Read ↗

[Metachromatic leukodystrophy (MLD) and Multiple sulphatase deficiency (MSD)].Semantic proximity Read ↗

Spectrum of ARSA mutations in Iranian patients with metachromatic leukodystrophy.Semantic proximity Read ↗

[Analysis of ARSA gene variant in an infant with late infantile metachromatic leukodystrophy].Semantic proximity Read ↗

Identification of a novel splicing mutation in the ARSA gene in a patient with late-infantile form of metachromatic leukodystrophy.Semantic proximity Read ↗

Whole-exome sequencing identifies compound heterozygous mutations in ARSA of two siblings presented with atypical onset of metachromatic leukodystrophy from a Chinese pedigree.Semantic proximity Read ↗

Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants.Semantic proximity Read ↗

[Genetic analysis of a patient with late infantile metachromatic leukodystrophy].Semantic proximity Read ↗

The Missense Mutation In ARSA Gene Causes The Juvenile Form Of MLDSemantic proximity Read ↗

Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD).Semantic proximity Read ↗

[Analysis of genetic variant in a patient with juvenile meterochromic leukodystrophy].Semantic proximity Read ↗

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