Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency

BACKGROUND: Mucopolysaccharidoses (MPS) are monogenic metabolic disorders that significantly affect the skeleton. Eleven enzyme defects in the lysosomal degradation of glycosaminoglycans (GAGs) have been assigned to the known MPS subtypes (I–IX). Arylsulfatase K (ARSK) is a recently characterised ly...

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Detalles Bibliográficos
Autores principales: Verheyen, Sarah, Blatterer, Jasmin, Speicher, Michael R, Bhavani, Gandham SriLakshmi, Boons, Geert-Jan, Ilse, Mai-Britt, Andrae, Dominik, Sproß, Jens, Vaz, Frédéric Maxime, Kircher, Susanne G, Posch-Pertl, Laura, Baumgartner, Daniela, Lübke, Torben, Shah, Hitesh, Al Kaissi, Ali, Girisha, Katta M, Plecko, Barbara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Biochemical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9554054/
https://www.ncbi.nlm.nih.gov/pubmed/34916232
http://dx.doi.org/10.1136/jmedgenet-2021-108061

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9554054/
https://www.ncbi.nlm.nih.gov/pubmed/34916232
http://dx.doi.org/10.1136/jmedgenet-2021-108061

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