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A novel mutation in two Spanish children with Niemann Pick disease: description of genotype, sphingomyelinase activity, phenotype and review

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Bibliographic Details
Main Authors:	Pablo del Villar-Guerra (Author), Celia Reig (Author), Pilar Irún (Author), Blanca Moreno (Author), Pilar Giraldo (Author), Jorge J. Cebolla (Author)
Format:	Book
Published:	Elsevier, 2021-05-01T00:00:00Z.
Subjects:	article
Online Access:	Connect to this object online.
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