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