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Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia

Mucopolysaccharidosis VI (MPS VI) is an autosomal recessive lysosomal storage disease caused by mutations in the arylsulfatase B gene (ARSB) and consequent deficient activity of ARSB, a lysosomal enzyme involved in the glycosaminoglycan (s) (GAGs) metabolism. Here, we present the results of the stud...

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Detalles Bibliográficos
Autores principales: Voskoboeva, Elena, Semyachkina, Alla, Miklyaev, Ochir, Gamzatova, Amina, Mikhaylova, Svetlana, Vashakmadze, Nato, Baydakova, Galina, Omzar, Olga, Pichkur, Natalia, Zakharova, Ekaterina, Kutsev, Sergey
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8804521/
https://www.ncbi.nlm.nih.gov/pubmed/35118118
http://dx.doi.org/10.3389/fmolb.2021.780184