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Arylsulfatase K inactivation causes mucopolysaccharidosis due to deficient glucuronate desulfation of heparan and chondroitin sulfate

Mucopolysaccharidoses comprise a group of rare metabolic diseases, in which the lysosomal degradation of glycosaminoglycans (GAGs) is impaired due to genetically inherited defects of lysosomal enzymes involved in GAG catabolism. The resulting intralysosomal accumulation of GAG-derived metabolites co...

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Bibliografiske detaljer
Udgivet i:Biochem J
Main Authors: Trabszo, Christof, Ramms, Bastian, Chopra, Pradeep, Lüllmann-Rauch, Renate, Stroobants, Stijn, Sproß, Jens, Jeschke, Anke, Schinke, Thorsten, Boons, Geert-Jan, Esko, Jeffrey D., Lübke, Torben, Dierks, Thomas
Format: Artigo
Sprog:Inglês
Udgivet: 2020
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8261863/
https://ncbi.nlm.nih.gov/pubmed/32856704
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BCJ20200546
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