Literature DB >> 26255750

Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease.

Maja Di Rocco1, Rita Barone2, Annalisa Madeo3, Agata Fiumara4.   

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Year:  2015        PMID： 26255750     DOI： 10.1016/j.pediatrneurol.2015.06.017

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN： 0887-8994            Impact factor:   3.372


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  2 in total

1.  Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations.

Authors:  Evangelia Bountouvi; Anna Papadopoulou; Marie T Vanier; Georgia Nyktari; Spyridon Kanellakis; Helen Michelakakis; Argyrios Dinopoulos
Journal:  BMC Med Genet       Date:  2017-05-04       Impact factor: 2.103

2.  Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C.

Authors:  Shiri Curelaru; Yoav Zehavi; Tal Almagor; Ronen Spiegel
Journal:  Mol Genet Metab Rep       Date:  2021-03-06
  2 in total

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