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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...
Autores principales: | Barboura, Ilhem, Hadded, Samir, Chebel, Saber, Mansour, Rachida Ben, Chahed, Hinda, Gueddiche, Mohamed-Néji, Frih-Ayed, Mahbouba, Ferchichi, Salima, Miled, Abdelhédi |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2012
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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 |
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