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

当前位置： X-MOL 学术 › Genet. Med. › 论文详情

Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)

Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis.
Genetics in Medicine ( IF 8.8 ) Pub Date : 2019-Jan-01 , DOI: 10.1038/gim.2018.31
Hiroki Maruyama ₁ , Kaori Miyata ₂ , Mariko Mikame ₁ , Atsumi Taguchi ₁ , Chu Guili ₁ , Masaru Shimura ₃ , Kei Murayama ₃ , Takeshi Inoue ₄ , Saori Yamamoto ₅ , Koichiro Sugimura ₅ , Koichi Tamita ₆ , Toshihiro Kawasaki ₆ , Jun Kajihara ₇ , Akifumi Onishi ₈ , Hitoshi Sugiyama ₈ , Teiko Sakai ₉ , Ichijiro Murata ₁₀ , Takamasa Oda ₁₁ , Shigeru Toyoda ₁₂ , Kenichiro Hanawa ₁₃ , Takeo Fujimura ₁₄ , Shigehisa Ura ₁₅ , Mimiko Matsumura ₁₆ , Hideki Takano ₁₆ , Satoshi Yamashita ₁₇ , Gaku Matsukura ₁₇ , Ryushi Tazawa ₁₈ , Tsuyoshi Shiga ₁₉ , Mio Ebato ₂₀ , Hiroshi Satoh ₂₁ , Satoshi Ishii ₂₂

Affiliation

Department of Clinical Nephroscience, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Sanofi K.K., Sanofi Genzyme Medical Operations, Rare Disease Medical, Medical Science Liaison, Tokyo, Japan.
Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Koshigaya, Japan.
Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.
Nishinomiya Watanabe Cardiovascular Center, Nishinomiya, Japan.
Department of Cardiology, Fujinomiya City General Hospital, Fujinomiya, Japan.
Department of Human Resource Development of Dialysis Therapy for Kidney Disease, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Science, Okayama, Japan.
Sukoyaka Clinic, Gifu, Japan.
Department of Chronic Kidney Disease, Gifu University Graduate School of Medicine, Gifu, Japan.
Yamaguchi Prefectural Grand Medical Center, Hofu, Japan.
Department of Cardiovascular Medicine, Dokkyo Medical University, Mibu, Japan.
Department of Cardiology, Internal Medicine, Iwaki Kyoritsu General Hospital, Iwaki, Japan.
Department of Nephrology, Kashiwazaki General Hospital and Medical Center, Kashiwazaki, Japan.
Division of Neurology, Japanese Red Cross Asahikawa Hospital, Asahikawa, Japan.
Department of Nephrology, Tokyo Teishin Hospital, Kashiwazaki, Japan.
Department of Cardiology, Japanese Red Cross Hamamatsu Hospital, Hamamatsu, Japan.
Division of Medical Genetics, Bioscience Medical Research Center, Niigata University Medical and Dental Hospital, Niigata, Japan.
Department of Cardiology, Tokyo Women's Medical University, Tokyo, Japan.
Division of Cardiology, Showa University Fujigaoka Hospital, Yokohama, Japan.
Division of Cardiology, Internal Medicine III, Hamamatsu University School of Medicine, Hamamatsu, Japan.
GlycoPharma Corporation, Oita, Japan.

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.

中文翻译：