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Article

[Diagnostic strategy of metachromatic leukodystrophy in Tunisia].

Annales de biologie clinique - 1 Jan 2000

Barboura Ilhem, Chebel Saber, Ferchichi Salima, Ben Mansour Rachida, Frih-Ayed Mahbouba, Miled Abdelhedi

Abstract excerpt

We recruited a 44-year-old woman who had a dementia with behavioral and personality troubles. A biochemical analysis which includes a qualitative study of urinary sulfatides by thin layer chromatography followed by the determination of the enzymatic activity of arylsulfatase A (ARSA) was performed. The Molecular analysis concerned the research of the most frequent mutations (459 +1 G> A, p.P426L, p.I179S). The...

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Source

Identifiers

PMID: 21896413
DOI: 10.1684/abc.2011.0599

Genes

ARSA

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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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