Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis

BACKGROUND: Metachromatic Leukodystrophy (MLD, OMIM 250100) is a neurodegenerative disease caused by mutations in the ARSA gene (OMIM 607574) that lead to deficiency in Arylsulfatase A (ASA). ASA pseudodeficiency (PD‐ASA) is a biochemical condition that substantially diminishes ASA activity but is n...

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Detalles Bibliográficos
Autores principales: Juárez‐Osuna, Jesús A., Mendoza‐Ruvalcaba, Sandra C., Porras‐Dorantes, Angela, Da Silva‐José, Thiago D., García‐Ortiz, José E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434603/
https://www.ncbi.nlm.nih.gov/pubmed/32431092
http://dx.doi.org/10.1002/mgg3.1305

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434603/
https://www.ncbi.nlm.nih.gov/pubmed/32431092
http://dx.doi.org/10.1002/mgg3.1305

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