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BILE ACID BIOMARKERS FOR NIEMANN-PICK DISEASES, METHODS AND USES THEREFOR
BILE ACID BIOMARKERS FOR NIEMANN-PICK DISEASES, METHODS AND USES THEREFOR
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机译:胆碱病的胆汁酸生物标志物,方法和用途
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摘要
Methods for identification and quantification of bile acids are disclosed. Bile acids in plasma, serum and/or blood such as a dried blood spot are used to identify subjects with a Niemann-Pick disease. The methods include measuring levels of a bile acid, such as 3β,5α,6β-trihydroxycholanic acid, N-(3β,5α,6β-trihydroxy-cholan-24-oyl)glycine, N-(3β,5α,6β-trihydroxy-cholan-24-oyl)taurine, or a combination thereof. Detection of bile acids involve mass spectroscopy and/or a combination of mass spectroscopy and liquid chromatography such as a LC-MS/MS assay. The methods can be used with sphingomyelinase assays to detect, diagnose and differentiate between Niemann-Pick A/B and Niemann-Pick C (NPC) disease.
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机译:公开了鉴定和定量胆汁酸的方法。血浆,血清和/或血液(例如干血斑)中的胆汁酸用于鉴定患有尼曼-皮克病的受试者。该方法包括测量胆汁酸的水平,例如3β,5α,6β-三羟基胆酸,N-(3β,5α,6β-三羟基-cholan-24-oyl)甘氨酸,N-(3β,5α,6β-三羟基-胆烷-24-酰基)牛磺酸或其组合。胆汁酸的检测涉及质谱和/或质谱与液相色谱法(例如LC-MS / MS测定法)的组合。该方法可与鞘磷脂酶测定法一起使用,以检测,诊断和区分Niemann-Pick A / B和Niemann-Pick C(NPC)疾病。
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