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[A novel mutation in two spanish children with the Niemann Pick disease: Description of genotype, acid sphingomyelinase activity, phenotype and review].

Anales de pediatria - 1 May 2021

Del Villar-Guerra Pablo, Reig Celia, Irún Pilar, Moreno Blanca, Giraldo Pilar, Cebolla Jorge J

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PMID: 32778503
DOI: 10.1016/j.anpedi.2020.03.021

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