Mucopolysaccharidoses Differential Diagnosis by Mass Spectrometry-Based Analysis of Urine Free Glycosaminoglycans—A Diagnostic Prediction Model

Impaired glycosaminoglycans (GAGs) catabolism may lead to a cluster of rare metabolic and genetic disorders called mucopolysaccharidoses (MPSs). Each subtype is caused by the deficiency of one of the lysosomal hydrolases normally degrading GAGs. Affected tissues accumulate undegraded GAGs in cell ly...

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Detalles Bibliográficos
Autores principales: D’Avanzo, Francesca, Zanetti, Alessandra, Dardis, Andrea, Scarpa, Maurizio, Volpi, Nicola, Gatto, Francesco, Tomanin, Rosella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10046358/
https://www.ncbi.nlm.nih.gov/pubmed/36979466
http://dx.doi.org/10.3390/biom13030532

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10046358/
https://www.ncbi.nlm.nih.gov/pubmed/36979466
http://dx.doi.org/10.3390/biom13030532

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