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Biochemical diagnosis of mucopolysaccharidosis in a Mexican reference center

Mucopolysaccharidoses (MPS) are a group of genetic disorders, each resulting from the deficiency of one of the lysosomal enzymes that catabolizes mucopolysaccharides. For the accurate diagnosis of the disease, the quantification of a specific enzymatic activity is needed. In the present study, we an...

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Detalles Bibliográficos
Autores principales:	Mendoza-Ruvalcaba, Sandra del Carmen, Brambila-Tapia, Aniel Jessica Leticia, Juárez-Osuna, Jesús Alejandro, Silva-José, Thiago Donizete Da, García-Ortiz, José Elías
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Sociedade Brasileira de Genética 2020
Materias:	Human and Medical Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7198031/ https://www.ncbi.nlm.nih.gov/pubmed/32106281 http://dx.doi.org/10.1590/1678-4685-GMB-2018-0347

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