Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA

Abstract Mucopolysaccharidosis type IVA (MPS IVA) is an inborn error of glycosaminoglycan (GAG) catabolism characterized by a deficiency of the lysosomal enzyme, N‐acetylgalactosamine 6‐sulphatase (GALNS). Consequently, partially degraded GAG, chondroitin 6‐sulfate (CS) and keratan sulfate (KS), acc...

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Bibliographic Details
Main Authors: Sharon J. Chin, Jennifer T. Saville, Belinda K. McDermott, Andreas Zankl, Janice M. Fletcher, Maria Fuller
Format: Article
Language:English
Published: Wiley 2020-09-01
Series:JIMD Reports
Subjects:
Online Access:https://doi.org/10.1002/jmd2.12132