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Fast urinary screening of oligosaccharidoses by MALDI-TOF/TOF mass spectrometry
BACKGROUND: Oligosaccharidoses, which belong to the lysosomal storage diseases, are inherited metabolic disorders due to the absence or the loss of function of one of the enzymes involved in the catabolic pathway of glycoproteins and indirectly of glycosphingolipids. This enzymatic deficiency typica...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922009/ https://www.ncbi.nlm.nih.gov/pubmed/24502792 http://dx.doi.org/10.1186/1750-1172-9-19 |