how to cite this article: rezayi ar. vitamin e and niemann–pick disease type c. iran j child neurol. 2015 autumn;9:4(suppl.1): 23. pls see pdf.

Niemann-Pick Diseases (NPD) is lysosomal storage diseases caused by Acid Sphingo Myelinase (ASM) deficiency, which catalyzes the hydrolysis of Myelin

how to cite this article: salehpour sh. diagnostic methods for neimann-pick type c. iran j child neurol. 2015 autumn;9:4(suppl.1): 16-17.   pls see pdf.

how to cite this article: karimzadeh p. juvenile type of niemann-pick type c disease and our study in iranian npc patients. iran j child neurol. 201 5 autumn;9:4(suppl.1): 5-6. pls see pdf.

A 4-year-old Afghan girl born to consanguineous parents presented with progressive neurological regression and hepatomegaly noticed after one year of age. The child had hypotonia, repeated unexplained falls and facial dyskinesia. Bone marrow examination revealed presence of storage cells suggestive of Gauchers or Niemann Pick. Confirmatory study by lysosomal enzyme from leucocytes was normal fo...

So what does NPC1 really do? This is the key question. NPC1 shares significant structural homology with the resistance–nodulation–division (RND) family of permeases, members of which transport a number of substrates including heavy metals and lipids. Like its prokaryotic counterparts, NPC1 appears to transport fatty acids, but has not yet been shown to transport cholesterol. It has been suggest...

how to cite this article: alaei mr. preinatal types of niemann-pick disease type c. iran j child neurol. 2015 autumn;9:4(suppl.1): 12. pls see pdf.