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

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), accumulate i...

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Detalles Bibliográficos
Autores principales:	Chin, Sharon J., Saville, Jennifer T., McDermott, Belinda K., Zankl, Andreas, Fletcher, Janice M., Fuller, Maria
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Inc. 2020
Materias:	Research Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7463049/ https://www.ncbi.nlm.nih.gov/pubmed/32905071 http://dx.doi.org/10.1002/jmd2.12132

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