葡萄糖脑苷酶
生物标志物
色谱法
代谢组学
高效液相色谱法
固相萃取
化学
疾病
磷酸胆碱
溶血酶-
内科学
人血浆
药理学
医学
生物化学
磷脂
膜
磷脂酰胆碱
闪烁体
探测器
电气工程
工程类
作者
Iskren Menkovic,Michel Boutin,Abdulfatah Alayoubi,Filipa Curado,Péter Bauer,François Mercier,Georges‐Étienne Rivard,Christiane Auray‐Blais
出处
期刊:Bioanalysis
[Newlands Press Ltd]
日期:2022-02-01
卷期号:14 (4): 223-240
标识
DOI:10.4155/bio-2021-0242
摘要
Aim: Gaucher disease (GD) is caused by a deficiency of the lysosomal enzyme acid β-glucocerebrosidase. Recent metabolomic studies highlighted several new metabolites increased in the plasma of GD patients. We aimed to develop and validate a UPLC-MS/MS method allowing a relative quantitation of lyso-Gb1 and lyso-Gb1 analogs -28, -12, -2, +14, +16 and +18 Da in addition to sphingosylphosphorylcholine, N-palmitoyl-O-phosphocholine to study potential correlations with clinical manifestations. Methodology & results: Following solid-phase extraction, plasma samples were evaporated and resuspended in 100 μl of resuspension solution. Three microliter is injected into the UPLC-MS/MS for analysis. Conclusion: All biomarkers studied were increased in GD patients. Significant correlations were observed between specific analogs and hematological, and visceral complications, as well as overall disease severity.
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