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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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Kaydedildi:
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: MDPI AG 2021-06-01
Seri Bilgileri:Current Issues in Molecular Biology
Konular:
globotriaosylsphingosine
late-onset biopsy-proven Fabry disease
saposin
gene analysis
aberrant splicing transcript
Online Erişim:https://www.mdpi.com/1467-3045/43/1/32
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