Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis

Autor: Jesús A. Juárez‐Osuna, Sandra C. Mendoza‐Ruvalcaba, Angela Porras‐Dorantes, Thiago D. Da Silva‐José, José E. García‐Ortiz

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)

Abstract 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 c

Externí odkaz: https://doaj.org/article/26924220633c4aaca157c3074bc5dea6

Biochemical diagnosis of mucopolysaccharidosis in a Mexican reference center

Autor: Sandra C. Mendoza-Ruvalcaba, José Elías García-Ortiz, Aniel Jessica Leticia Brambila-Tapia, Jesús Alejandro Juárez-Osuna, Thiago Donizete Da Silva-José

Publikováno v: Genetics and Molecular Biology
Genetics and Molecular Biology, Volume: 43, Issue: 1, Article number: e20180347, Published: 14 FEB 2020
Genetics and Molecular Biology, Vol 43, Iss 1 (2020)
Genetics and Molecular Biology v.43 n.1 2020
Sociedade Brasileira de Genética (SBG)
instacron:SBG

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 enzymat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fcdd0eb72e8145f1880d9209926c3bf
http://europepmc.org/articles/PMC7198031

Biochemical diagnosis of mucopolysaccharidoses in Mexico: preliminary results in a reference center

Autor: José Elías García-Ortiz, Sandra C. Mendoza-Ruvalcaba, Thiago Donizete Da Silva-José, Jesús Alejandro Juárez-Osuna

Publikováno v: Molecular Genetics and Metabolism. 114:S44-S45

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::eb90f9d7af4554fb7ce146f9a40cb5bc
https://doi.org/10.1016/j.ymgme.2014.12.085