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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...
Autores principales: | Voskoboeva, Elena, Semyachkina, Alla, Miklyaev, Ochir, Gamzatova, Amina, Mikhaylova, Svetlana, Vashakmadze, Nato, Baydakova, Galina, Omzar, Olga, Pichkur, Natalia, Zakharova, Ekaterina, Kutsev, Sergey |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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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 |
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