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...

Descripción completa

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

Internet

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

Ejemplares similares