Nueva mutación asociada con la enfermedad de Niemann-Pick en dos niños españoles: descripción del genotipo, actividad de la esfingomielinasa ácida, fenotipo y revisión

Nueva mutación asociada con la enfermedad de Niemann-Pick en dos niños españoles: descripción del genotipo, actividad de la esfingomielinasa ácida, fenotipo y revisión

Bibliographic Details
Main Authors:	Pablo del Villar-Guerra, Celia Reig, Pilar Irún, Blanca Moreno, Pilar Giraldo, Jorge J. Cebolla
Format:	Article
Language:	Spanish
Published:	Elsevier 2021-05-01
Series:	Anales de Pediatría
Online Access:	http://www.sciencedirect.com/science/article/pii/S1695403320302319

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