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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...

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Detalhes bibliográficos
Main Authors: Bonesso, Laurent, Piraud, Monique, Caruba, Céline, Van Obberghen, Emmanuel, Mengual, Raymond, Hinault, Charlotte
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3922009/
https://ncbi.nlm.nih.gov/pubmed/24502792
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-9-19
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