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Diagnosis in bile acid-CoA:Amino acid N-acyltransferase deficiency 被引量:3
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作者 Nedim Hadzi Laura N Bull +1 位作者 Peter T Clayton AS Knisely 《World Journal of Gastroenterology》 SCIE CAS CSCD 2012年第25期3322-3326,共5页
Cholate-CoA ligase (,EEL) and bile acid-CoA: amino acid N-acyltransferase (BAAT) sequentially mediate bile-acid amidation. Defects can cause intrahepatic cholestasis. Distinction has required gene sequencing. We ... Cholate-CoA ligase (,EEL) and bile acid-CoA: amino acid N-acyltransferase (BAAT) sequentially mediate bile-acid amidation. Defects can cause intrahepatic cholestasis. Distinction has required gene sequencing. We assessed potential clinical utility of immunostaining of liver for CCL and BAAT. Using commercially available antibodies against BAAT and CCL, we immunostained liver from an infant with jaundice, deficiency of amidated bile acids, and transcription-terminating mutation in BAAT. CCL was normally expressed. BAAT expression was not de- tected. Immunostaining may facilitate diagnosis in bile- acid amidation defects. 展开更多
关键词 AMIDATION Bile acid-CoA Amino acid N-ac- yltransferase Cholate-CoA ligase Cholestasis Conjuga-tion Electrospray ionisation-mass spectroscopy Immu-nohistochemistry Liver Neonatal hepatitis SIC27A5 Transmission electron microscopy
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Affinity Capture Coupled with Nano-Electrospray Ionization-Mass Spectrometry for Rapid Detection of 25-hydroxyvitamin D_(3) in Serum
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作者 Huaiyi Chen Ziwei Liao +5 位作者 Gongwei Sun Tianhao Wu Jinlei Yang Siyuan Pan Sichun Zhang Fei Tang 《Journal of Analysis and Testing》 2025年第3期389-393,共5页
Due to the important role of vitamin D in metabolism,developing a method for rapid and high-throughput analysis of vitamin D and its metabolites is crucial.However,the current clinical diagnostic methods have the disa... Due to the important role of vitamin D in metabolism,developing a method for rapid and high-throughput analysis of vitamin D and its metabolites is crucial.However,the current clinical diagnostic methods have the disadvantage of complicated operating procedures.In the present study,a technique combining immunocapture with mass spectrometry for rapidly detecting of 25-hydroxyvitamin D_(3)in serum was developed.This method employs an antibody–antigen reaction to specifically enrich 25-hydroxyvitamin D_(3)and remove complex interfering substances.Qualitative and quantitative analysis of 25-hydroxyvitamin D_(3)was achieved by nano-electrospray ionization-mass spectrometry(nano-ESI–MS).The method exhibited good linearity in the range of 1–100 ng/mL with satisfactory recovery and repeatability.The proposed method is promising for high-throughput and rapid analysis of small molecules with mass spectrometry.And it can potentially be combined with portable mass spectrometers to meet the requirements of point-of-care detection. 展开更多
关键词 25-hydroxyvitamin D_(3) SERUM IMMUNOREACTION Nano-electrospray ionisation-mass spectrometry (nano-ESI-MS) Rapid and high-throughput
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