首页> 外文期刊>Clinica chimica acta: International journal of clinical chemistry and applied molecular biology >Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma
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Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma

机译:GLA基因的变异与尿液和血浆中的globotriaosylceramide和globotriaosylsphingosine类似物水平相关

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摘要

Recent data have shown that lyso-Gb(3), the deacylated derivative of globotriaosylceramide (Gb(3)), is possibly involved in the pathogenesis of Fabry disease (FD) and might be a clinically useful biomarker of its metabolic load. To test this hypothesis, we assayed Gb(3) and lyso-Gb(3) and related analogs in plasma and/or urine samples of 12 clinically well-characterized subjects carrying several different GM variant alleles associated with a wide range of residual alpha-galactosidase A activities. Urinary Gb(3) was measured by HPLC-MS/MS; plasma and urinary lyso-Gb(3) and related analogs were measured by UPLC-MS/MS.
机译:最近的数据表明,溶血球蛋白(globotriaosylceramide)(Gb(3))的去酰化衍生物lyso-Gb(3)可能与法布里病(FD)的发病机理有关,并且可能是其代谢负荷的临床有用的生物标记。为了验证这一假设,我们在12名临床特征明确的受试者的血浆和/或尿液样本中检测了Gb(3)和lyso-Gb(3)及其相关类似物,这些受试者携带了几种与广泛的残基α-相关的GM变异等位基因。半乳糖苷酶A活性。用HPLC-MS / MS测定尿中的Gb(3);通过UPLC-MS / MS测量血浆和尿溶血Gb(3)及相关类似物。

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