Cargando…
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...
| Autores principales: | , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
|
| Materias: | |
| 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 |