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Neonatal Mass Urine Screening Approach for Early Detection of Mucopolysaccharidoses by UPLC-MS/MS

Mucopolysaccharidoses (MPSs) are lysosomal storage disorders caused by deficiencies of enzymes involved in the catabolism of glycosaminoglycans (GAGs). Various treatments such as enzyme replacement therapy and/or hematopoietic stem cell transplant are available for MPSs. Early initiation of treatmen...

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Detalles Bibliográficos
Autores principales: Menkovic, Iskren, Marchand, Anne-Sophie, Boutin, Michel, Auray-Blais, Christiane
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6963508/
https://www.ncbi.nlm.nih.gov/pubmed/31752121
http://dx.doi.org/10.3390/diagnostics9040195