Results 141 to 150 of about 957 (152)

Screening for Fabry Disease in Japanese Patients with Young-Onset Stroke by Measuring α-Galactosidase A and Globotriaosylsphingosine

Journal of Stroke and Cerebrovascular Diseases, 2018
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in GLA, which encodes the enzyme α-galactosidase A (α-Gal A). Although the prevalence of Fabry disease in patients with stroke has been reported to range from 0% to 4%, few cohort studies have examined Japanese stroke patients.
Naoto Kinoshita, Naohisa Hosomi, Hayato Matsushima, Masahiro Nakamori, Yoshiki Yagita, Takemori Yamawaki, Tsuyoshi Torii, Takeshi Kitamura, Yoshimasa Sueda, Ryo Shimomura, Mutsuko Araki, Tomohisa Nezu, Shiro Aoki, Satoshi Ishii, Hiroki Maruyama, Masayasu Matsumoto, Hirofumi Maruyama   +16 more
openaire   +2 more sources

Elevated globotriaosylsphingosine as a hallmark of Fabry disease

Chemistry and Physics of Lipids, 2008
Ben J. Poorthuis, Johanna E. Groener, Roelof Ottenhoff, Frits A. Wijburg, Carla E. Hollak, Johannes M. Aerts   +5 more
openaire   +1 more source

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

Current Issues in Molecular Biology, 2021
Naoki Morito, Michihiro Hosojima, Hitoshi Sugiyama   +2 more
exaly  

Novel quantification methods for globotriaosylceramide and globotriaosylsphingosine as biomarkers of Fabry disease

Molecular Genetics and Metabolism, 2015
Noboru Tanaka, Hideto Morimoto, Eiji Yoden, Ryuji Yamamoto   +3 more
openaire   +1 more source

Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients

Clinical Chemistry and Laboratory Medicine, 2021
Lorenzo Ferri, Sandro Feriozzi, Renzo Mignani   +2 more
exaly  

Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease

Molecular Genetics and Metabolism, 2017
Mehta Ab, Christoph Wanner, Maarten Arends   +2 more
exaly  

Diagnostic Usefulness of Plasma Level of Globotriaosylsphingosine in Patients with Anderson-Fabry Disease

Journal of Cardiac Failure, 2017
Koichiro Sugimura, Saori Yamamoto, Tatsuo Aoki, Shunsuke Tatebe, Nobuhiro Yaoita, Haruka Sato, Katsuya Kozu, Ryo Konno, Kimio Satoh, Hiroaki Shimokawa   +9 more
openaire   +1 more source

Usefulness of lyso-globotriaosylsphingosine in dried blood spots in the differential diagnosis between multiple sclerosis and Anderson–Fabry's disease

Multiple Sclerosis and Related Disorders, 2020
Susana Olivera
exaly  

Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A)

Clinica Chimica Acta, 2013
Cathy Sj Fann, Kai-Sheng Hsieh, Yann-Jang Chen   +2 more
exaly  

Globotriaosylsphingosine (Lyso-GB3 bzw. Lyso-GL3), an Excellent Biomarker for Children with Fabry Disease

Neuropediatrics, 2017
N. Karabul, T. Marquardt, M. Petersen, A. Beckmann, E. Namal, T. Lücke   +5 more
openaire   +1 more source