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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 i...

Topics

Base Sequence
Cerebroside-Sulfatase
Genotype
Glycoproteins
Humans
Leukodystrophy, Metachromatic
Lysosomes
Molecular Sequence Data
Mutation
Phenotype
Saposins
Sphingolipid Activator Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sulfatases

Source

Identifiers

PMID: 8577048

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8577048-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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