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

[Metachromatic leukodystrophy (MLD) and Multiple sulphatase deficiency (MSD)].

Nihon rinsho. Japanese journal of clinical medicine - 1 Dec 1995

Eto Y, Hasegawa Y, Tsuda T

Abstract excerpt

MLD is caused by a deficiency of arylsulfatase A and hence sulfolipids are accumulated in various patient's tissues. Various clinical phenotypes including activator deficiency, pseudodeficiency and MSD. Recently, molecular basis of these disorders have been identified. Clinical phenotype in MLD is well correlated with their genotype. Most common mutation in Caucasian MLD is caused by 609A mutation which produces...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Cerebroside-Sulfatase
Share to Genotype

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

Share to Glycoproteins

Share to Lysosomes

Share to Molecular Sequence Data

Share to Mutation

Share to Phenotype

Source

Identifiers

PMID: 8577048

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

[Metachromatic leukodystrophy (MLD) and Multiple sulphatase deficiency (MSD)].PMID 8577048Read ↗

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

[Metachromatic leucodystrophy. Clinical, biological, and therapeutic aspects].Semantic proximity Read ↗

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

Metachromatic Leukodystrophy – An UpdateSemantic proximity Read ↗

Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum.Semantic proximity Read ↗

Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD).Semantic proximity Read ↗

Adult-onset metachromatic leukodystrophy: a novel genotype with a distinct phenotype.Semantic proximity Read ↗

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

Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy.Semantic proximity Read ↗

Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy.Semantic proximity Read ↗

Molecular characteristics in Japanese patients with lipidosis: novel mutations in metachromatic leukodystrophy and Gaucher disease.Semantic proximity Read ↗

Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients.Semantic proximity Read ↗

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