Bio-Plex immunoassay measuring the quantity of lysosomal N-acetylgalactosamine-6-sulfatase protein in dried blood spots for the screening of mucopolysaccharidosis IVA in newborn: a pilot study

OBJECTIVE: Mucopolysaccharidosis (MPS) IVA (Morquio syndrome A) is an autosomal-recessive lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfatase (GALNS) resulting in excessive lysosomal storage of keratan sulfate. Treatments for MPS IVA have recently become availabl...

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Detalhes bibliográficos
Publicado no:BMJ Open
Main Authors: Chuang, Chih-Kuang, Lin, Hsiang-Yu, Wang, Tuan-Jen, Huang, Sung-Fa, Lin, Shuan-Pei
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2017
Assuntos:
Genetics and Genomics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5734244/
https://ncbi.nlm.nih.gov/pubmed/28710204
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bmjopen-2016-014410
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