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Article

Brain MRI and biological diagnosis in five Tunisians MLD patients.

Diagnostic pathology - 28 Jan 2012

Barboura Ilhem, Hadded Samir, Chebel Saber, Ben Mansour Rachida, Chahed Hinda, Gueddiche Mohamed-Néji, Frih-Ayed Mahbouba, Ferchichi Salima, Miled Abdelhédi

Abstract excerpt

Metachromatic leukodystrophy (MLD) is a recessive autosomal disease which is characterized by an accumulation of sulfatides in the central and peripheral nervous system. It is due to the enzyme deficiency of the sulfatide sulfatase i.e. arylsulfatase A (ASA). we studied 5/200 cases of MLD and clearly distinguished three clinical forms. One of them presented the juvenile form; two presented the late infantile...

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Identifiers

PMID: 22284439
DOI: 10.1186/1746-1596-7-11
PMCID: PMC3298776

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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.

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