Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis

PURPOSE: Plasma globotriaosylsphingosine (lyso-Gb3) is a promising secondary screening biomarker for Fabry disease. Here, we examined its applicability as a primary screening biomarker for classic and late-onset Fabry disease in males and females. METHODS: Between 1 July 2014 and 31 December 2015, w...

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Publicat a:Genet Med
Autors principals: Maruyama, Hiroki, Miyata, Kaori, Mikame, Mariko, Taguchi, Atsumi, Guili, Chu, Shimura, Masaru, Murayama, Kei, Inoue, Takeshi, Yamamoto, Saori, Sugimura, Koichiro, Tamita, Koichi, Kawasaki, Toshihiro, Kajihara, Jun, Onishi, Akifumi, Sugiyama, Hitoshi, Sakai, Teiko, Murata, Ichijiro, Oda, Takamasa, Toyoda, Shigeru, Hanawa, Kenichiro, Fujimura, Takeo, Ura, Shigehisa, Matsumura, Mimiko, Takano, Hideki, Yamashita, Satoshi, Matsukura, Gaku, Tazawa, Ryushi, Shiga, Tsuyoshi, Ebato, Mio, Satoh, Hiroshi, Ishii, Satoshi
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group US 2018
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6363642/
https://ncbi.nlm.nih.gov/pubmed/29543226
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2018.31
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