Identification of three novel mutations in Japanese patients with Menkes disease and mutation screening by denaturing high performance liquid chromatography

2005 ◽  
Vol 47 (1) ◽  
pp. 1-6 ◽  
Author(s):  
Atsuko Watanabe ◽  
Norikazu Shimizu
Keyword(s):  
High Performance Liquid Chromatography ◽  
Liquid Chromatography ◽  
High Performance ◽  
Mutation Screening ◽  
Menkes Disease ◽  
Japanese Patients ◽  
Novel Mutations

Quantification of the Plasma Concentrations of Perampanel Using High-Performance Liquid Chromatography and Effects of the CYP3A4*1G Polymorphism in Japanese Patients

2020 ◽  
Vol 58 (10) ◽  
pp. 915-921
Author(s):  
Sho Ohkubo ◽  
Yumiko Akamine ◽  
Tadashi Ohkubo ◽  
Yuka Kikuchi ◽  
Masatomo Miura
Keyword(s):  
High Performance Liquid Chromatography ◽  
Liquid Chromatography ◽  
Clinical Practice ◽  
Plasma Volume ◽  
High Performance ◽  
Plasma Concentrations ◽  
Japanese Patients ◽  
Hplc Method ◽  
Limit Of Quantification ◽  
Coefficients Of Variation

Abstract Here, we developed a novel high-performance liquid chromatography (HPLC) method for quantification of perampanel in clinical practice and investigated the relationships between the plasma concentrations of perampanel obtained by this HPLC method and the CYP3A4*1G polymorphism. The developed HPLC method was validated based on US Food and Drug Administration. The developed HPLC method could be performed with a plasma volume of only 200 μL and had a limit of quantification (LOQ) of 2.5 ng/mL. The coefficients of variation (CVs) for intra- and inter-day assays were less than 10.4 and 7.2%, respectively, and the accuracy was <2.4% for both assays. A total of 12 patients who received 2 mg perampanel had C0 values ranging from 70.5 to 451 ng/mL, and the CV showed a large variation of 51.4%. No correlations were observed between the dose-adjusted C0 and the CYP3A4*1G polymorphism. This method was superior to previously reported methods in terms of plasma volume and LOQ and was clinically applicable. Perampanel showed high variations in individual plasma concentrations; however, individual differences could not be predicted from analysis of the CYP3A4*1G polymorphism before perampanel administration. Therefore, after beginning perampanel treatment, the dose should be determined based on the observed plasma concentration.

scholarly journals NF2 Mutation Screening by Denaturing High-Performance Liquid Chromatography and High-Resolution Melting Analysis

2008 ◽  
Vol 12 (2) ◽  
pp. 311-318 ◽  
Author(s):  
Roberta Sestini ◽  
Aldesia Provenzano ◽  
Costanza Bacci ◽  
Claudio Orlando ◽  
Maurizio Genuardi ◽  
...  
Keyword(s):  
High Performance Liquid Chromatography ◽  
Liquid Chromatography ◽  
High Resolution ◽  
High Performance ◽  
High Resolution Melting ◽  
Mutation Screening ◽  
High Resolution Melting Analysis ◽  
Melting Analysis
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