A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Genetics (clinical),Molecular Biology,Biochemistry
Reference5 articles.
1. Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency;Verheyen;J Med Genet,2022
2. Phenotypic expansion of ARSK-related mucopolysaccharidosis;Rustad;Am J Med Genet A,2022
3. Arylsulfatase K, a novel lysosomal sulfatase;Wiegmann;J Biol Chem,2013
4. Arylsulfatase K inactivation causes mucopolysaccharidosis due to deficient glucuronate desulfation of heparan and chondroitin sulfate;Trabszo;Biochem J,2020
5. A multiplex assay for the diagnosis of mucopolysaccharidoses and mucolipidoses;Langereis;PLoS One,2015
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1. Mucopolysaccharidosis-Plus Syndrome: Is This a Type of Mucopolysaccharidosis or a Separate Kind of Metabolic Disease?;International Journal of Molecular Sciences;2024-09-04
2. Mucopolysaccharidosis Type IIIE: A Real Human Disease or a Diagnostic Pitfall?;Diagnostics;2024-08-09
3. Oral health status of Egyptian children with lysosomal storage diseases: An evaluation of dental indices, salivary cytokines level, and bacterial bioburden;International Journal of Paediatric Dentistry;2024-05-27
4. Further characterization of ARSK‐related mucopolysaccharidosis type 10;American Journal of Medical Genetics Part A;2024-04-18
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