Successful newborn screening for Gaucher disease using fluorometric assay in China

Gaucher disease (GD) is an inherited metabolic disorder that involves accumulation of glycolipid glucocerebroside in monocyte–macrophage cells, which can result in multiple organ damage. Enzyme replacement and substrate reduction therapies have improved the potential for early diagnosis and treatmen...

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Detalles Bibliográficos
Autores principales: Kang, Lulu, Zhan, Xia, Gu, Xuefan, Zhang, Huiwen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537412/
https://www.ncbi.nlm.nih.gov/pubmed/28356566
http://dx.doi.org/10.1038/jhg.2017.36

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537412/
https://www.ncbi.nlm.nih.gov/pubmed/28356566
http://dx.doi.org/10.1038/jhg.2017.36

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