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Brain MRI and biological diagnosis in five Tunisians MLD patients

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 clearl...

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Detalles Bibliográficos
Autores principales: Barboura, Ilhem, Hadded, Samir, Chebel, Saber, Mansour, Rachida Ben, Chahed, Hinda, Gueddiche, Mohamed-Néji, Frih-Ayed, Mahbouba, Ferchichi, Salima, Miled, Abdelhédi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3298776/
https://www.ncbi.nlm.nih.gov/pubmed/22284439
http://dx.doi.org/10.1186/1746-1596-7-11