Search Results - "T. Yu. Proshlyakova"
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1
A clinical case of adult onset Niemann–Pick disease type C
Published in Nevrologii͡a︡, neĭropsikhiatrii͡a︡, psikhosomatika (01-11-2016)“…The paper presents a brief review of an update of the etiology and pathogenesis of Niemann–Pick disease type C (NPC), a rare neurovisceral lysosomal storage…”
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Journal Article -
2
Clinical and genetic special features of Niemann-Pick disease, type C
Published in Vestnik Rossiĭskoĭ akademii medits︠i︡nskih nauk (2012)“…Niemann-Pick disease, type C is a rare hereditary disorder of the group of lisosomal storage diseases, caused by mutations in the genes NPC1 or NPC2. Depending…”
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Journal Article