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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Detalhes bibliográficos

Principais autores:	Hiroki Maruyama, Atsumi Taguchi, Mariko Mikame, Atsushi Izawa, Naoki Morito, Kazufumi Izaki, Toshiyuki Seto, Akifumi Onishi, Hitoshi Sugiyama, Norio Sakai, Kenji Yamabe, Yukio Yokoyama, Satoshi Yamashita, Hiroshi Satoh, Shigeru Toyoda, Michihiro Hosojima, Yumi Ito, Ryushi Tazawa, Satoshi Ishii
Formato:	Artigo
Idioma:	Inglês
Publicado em:	MDPI AG 2021-06-01
coleção:	Current Issues in Molecular Biology
Assuntos:	globotriaosylsphingosine late-onset biopsy-proven Fabry disease saposin gene analysis aberrant splicing transcript
Acesso em linha:	https://www.mdpi.com/1467-3045/43/1/32
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