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...

Descripción completa

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

Internet

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

Ejemplares similares