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Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population
OtherAbstract: Introduction and Objectives Niemann-Pick disease type A (NPD-A) and B (NPD-B) are lysosomal storagePalabras claves:Autores:MELANIE BRIGETTE ARROYO LOPEZFuentes:googlePP138—Analysis of CYP2D6 genetic polymorphisms in mexican mestizos, lacandones and tzeltales
OtherAbstract: Aim To perform a genetic analysis of CYP2D6 to determine the frequency of the hypothetical PM and UMPalabras claves:Autores:MELANIE BRIGETTE ARROYO LOPEZFuentes:googlePP139—Association of ABCB1, ABCC2, CYP2C9 and CYP2C19 polymorphism with phenytoin plasma concentrations
OtherAbstract: Aim To evaluate the association of CYP2C9, CYP2C19, ABCB1, and ABCC2 polymorphism on PHT plasma levePalabras claves:Autores:MELANIE BRIGETTE ARROYO LOPEZFuentes:googlePP143—Impact of UGT1A4 genotype in the clinical response to lamotrigine in patients with epilepsy
OtherAbstract: Aims To investigate the impact of UGT1A4* 1b, UGT1A4* 2 and UGT1A4* 3b polymorphism on LTG plasma lePalabras claves:Autores:MELANIE BRIGETTE ARROYO LOPEZFuentes:googleLow frequency of common LRRK2 mutations in Mexican patients with Parkinson's disease
OtherAbstract: Mutations in leucine-rich repeat kinase 2 gene (LRRK2) account for as much as 5–6% of familial ParkiPalabras claves:Autores:MELANIE BRIGETTE ARROYO LOPEZFuentes:googleScant XYqh− testicular cells with normal SRY was enough to differentiate bilateral testes in a 45, X/46, XYqh− patient
OtherAbstract: Objective: It has been established that in 45,X/46,XY individuals predominance of XY or XO gonadal cPalabras claves:Autores:MELANIE BRIGETTE ARROYO LOPEZFuentes:google