Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay

BACKGROUND: Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is an autosomal recessive disease caused and characterized by a decreased activity of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), resulting in accumulation of keratan sulfate and chondroitin-6-sulfate in tissues and secondary...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Cozma, Claudia, Eichler, Sabrina, Wittmann, Gyula, Flores Bonet, Alba, Kramp, Guido Johannes, Giese, Anne-Katrin, Rolfs, Arndt
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2015
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4492791/
https://ncbi.nlm.nih.gov/pubmed/26147980
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0131228
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