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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...
Autores principales: | Menkovic, Iskren, Marchand, Anne-Sophie, Boutin, Michel, Auray-Blais, Christiane |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2019
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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 |
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