Clinical experience with miglustat therapy in pediatric patients with Niemann–Pick disease type C: A case series-Reference-Cited by-同舟云学术

Clinical experience with miglustat therapy in pediatric patients with Niemann–Pick disease type C: A case series

Published:2010-04 Issue:4 Volume:99 Page:358-366
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Pineda M.,Perez-Poyato M.S.,O’Callaghan M.,Vilaseca M.A.,Pocovi M.,Domingo R.,Ruiz Portal L.,Verdú Pérez A.,Temudo T.,Gaspar A.,Garcia Peñas J.J.,Roldán S.,Martín Fumero L.,Blanco de la Barca O.,García Silva M.T.,Macías-Vidal J.,Coll M.J.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference28 articles.

1. Niemann–Pick disease type C;Vanier;Clin. Genet.,2003

2. Niemann–Pick C2 (NPC2) and intracellular cholesterol trafficking;Storch;Biochim. Biophys. Acta,2009

3. Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport;Sleat;Proc. Natl. Acad. Sci. USA,2004

4. Niemann–Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group;Millat;Am. J. Hum. Genet.,2001

5. Lipid changes in Niemann–Pick disease type C brain: personal experience and review of the literature;Vanier;Neurochem. Res.,1999

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