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Article

Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Nov 2017

Mercati Oriane, Pichard Samia, Ouachée Marie, Froissart Roseline, Fenneteau Odile, Roche Bastien, Elmaleh-Bergès Monique, Bertrand Yves, Ogier de Baulny Hélène, Vanier Marie T, Schiff Manuel

Abstract excerpt

Acid sphingomyelinase (ASM) deficient Niemann-Pick disease is a lysosomal storage disorder resulting from mutations in the SMPD1 gene. The clinical spectrum distinguishes a severe infantile neurological form (type A), a non-neurological visceral form (type B) and a rare intermediate neurovisceral form. We report the first case of presymptomatic cord blood transplantation in a child with the intermediate type of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28801223
DOI: 10.1016/j.ejpn.2017.07.015

Genes

SMPD1

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