AB108. The appliance of Bio-Plex immunoassay using dried blood spots for mucopolysaccharidosis IVA newborn screening in Taiwan—a pilot study

BACKGROUND: Mucopolysaccharidosis (MPS) IVA 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. This excessive storage causes a systemic skeletal dysplasia, short statu...

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Detalhes bibliográficos
Publicado no:Ann Transl Med
Main Authors: Lin, Chia-Hui, Chuang, Chih-Kuang, Lin, Hsiang-Yu, Wang, Tuen-Jen, Tsai, Chia-Chen, Lin, Shuan-Pei
Formato: Artigo
Idioma:Inglês
Publicado em: AME Publishing Company 2015
Assuntos:
Part 4: Oral/poster
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4563456/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB108
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