Screening for Gaucher Disease Using Dried Blood Spot Tests: A Japanese Multicenter, Cross-sectional Survey

OBJECTIVE: For patients with Gaucher disease (GD), a rare, inherited lysosomal storage disease, obtaining a definitive diagnosis is currently time-consuming and costly. A simplified screening method to measure the glucocerebrosidase (GBA) activity using dried blood spots (DBS) on filter paper has re...

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Detalles Bibliográficos
Autores principales: Miyamoto, Toshihiro, Iino, Masaki, Komorizono, Yasuji, Kiguchi, Toru, Furukawa, Nobufusa, Otsuka, Maki, Sawada, Shohei, Okamoto, Yutaka, Yamauchi, Kenji, Muto, Toshitaka, Fujisaki, Tomoaki, Tsurumi, Hisashi, Nakamura, Kimitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7990619/
https://www.ncbi.nlm.nih.gov/pubmed/33642560
http://dx.doi.org/10.2169/internalmedicine.5064-20

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7990619/
https://www.ncbi.nlm.nih.gov/pubmed/33642560
http://dx.doi.org/10.2169/internalmedicine.5064-20

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