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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Autors principals: Bonesso, Laurent, Piraud, Monique, Caruba, Céline, Van Obberghen, Emmanuel, Mengual, Raymond, Hinault, Charlotte
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2014
Matèries:
Research
Accés en línia: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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