Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort

Fabry disease is an X-linked disorder of α-galactosidase A (GLA) deficiency. Our previous interim analysis (1 July 2014 to 31 December 2015) revealed plasma globotriaosylsphingosine as a promising primary screening biomarker for Fabry disease probands. Herein, we report the final results, including...

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Detalles Bibliográficos
Autores principales: Maruyama, Hiroki, Taguchi, Atsumi, Mikame, Mariko, Izawa, Atsushi, Morito, Naoki, Izaki, Kazufumi, Seto, Toshiyuki, Onishi, Akifumi, Sugiyama, Hitoshi, Sakai, Norio, Yamabe, Kenji, Yokoyama, Yukio, Yamashita, Satoshi, Satoh, Hiroshi, Toyoda, Shigeru, Hosojima, Michihiro, Ito, Yumi, Tazawa, Ryushi, Ishii, Satoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8928976/
https://www.ncbi.nlm.nih.gov/pubmed/34205365
http://dx.doi.org/10.3390/cimb43010032

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