Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A)
نویسندگان
چکیده
منابع مشابه
Effects of enzyme replacement therapy for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A)
OBJECTIVE Current studies of newborn screening for Fabry disease in Taiwan have revealed a remarkably high prevalence of cardiac-type Fabry disease with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A). DESIGN Retrospective cohort study. SETTING Tertiary medical centre. PARTICIPANTS 21 patients with cardiac-type Fabry disease (15 men and 6 women) as well as 15 patients with class...
متن کاملGlobotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A)
BACKGROUND In Taiwan, DNA-based newborn screening showed a surprisingly high incidence (1/875 in males and 1/399 in females) of a cardiac Fabry mutation (IVS4 + 919G > A). However, the natural course, long-term treatment outcomes and suitable biomarkers for monitoring the therapeutic outcomes of these patients are largely unknown. METHODS Fabry disease (FD) patients who had received enzyme re...
متن کاملClinical significance of plasma globotriaosylsphingosine levels in Chinese patients with Fabry disease
Although plasma globotriaosylsphingosine (lyso-Gb3) is a promising biomarker of Fabry disease (FD), few studies have assessed the impact of lyso-Gb3 in patients with FD. A total of 38 patients diagnosed with FD at Ruijin Hospital between January 2012 and December 2014 were recruited in the current study. An additional 120 unrelated healthy individuals were selected as healthy controls. A simpli...
متن کاملMRI assessment of cardiomyopathy in Taiwan Chinese late-onset Fabry mutation (IVS4+919G>A)
Background Fabry disease is a rare X-linked disorder characterized by deficiency ofa-galactosidase A, leading to progressive accumulation of glycosphingolipid in various organs, including the heart. Recently, several later-onset phenotypes of Fabry disease with residual enzyme activity have been identified. In Taiwan, several recent studies pointed out a surprisingly high incidence of a later o...
متن کاملPlasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease
Fabry disease is an X-linked genetic disorder characterized by deficient activity of α-galactosidase A (GLA) and accumulation of glycolipids, and various GLA gene mutations lead to a wide range of clinical phenotypes from the classic form to the later-onset one. To investigate the biochemical heterogeneity and elucidate the basis of the disease using available clinical samples, we measured GLA ...
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ژورنال
عنوان ژورنال: Clinica Chimica Acta
سال: 2013
ISSN: 0009-8981
DOI: 10.1016/j.cca.2013.09.008