Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population

Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population

Introduction and Objectives: Niemann-Pick disease type A (NPD-A) and B (NPD-B) are lysosomal storage diseases with a birth prevalence of 0.4–0.6/100,000. They are caused by a deficiency in acid sphingomyelinase, an enzyme encoded by SMPD1. We analyzed the phenotype and genotype of four unrelated Mex...

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Bibliographic Details
Main Authors: Magdalena Cerón-Rodríguez, Edgar Ricardo Vázquez-Martínez, Constanza García-Delgado, Alberto Ortega-Vázquez, Pedro Valencia-Mayoral, Lyuva Ramírez-Devars, Christian Arias-Villegas, Irma Eloísa Monroy-Muñoz, Marisol López, Alicia Cervantes, Marco Cerbón, Verónica Fabiola Morán-Barroso
Format: Article
Language:English
Published: Elsevier 2019-07-01
Series:Annals of Hepatology
Subjects:
Acid sphingomyelinase deficiency
Lysosomal storage diseases
Online Access:http://www.sciencedirect.com/science/article/pii/S1665268119300560

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http://www.sciencedirect.com/science/article/pii/S1665268119300560

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