Doença de Niemann-Pick tipo C : caracterização bioquímica do fenótipo clássico e sua comparação com o fenótipo variante

Doença de Niemann-Pick tipo C : caracterização bioquímica do fenótipo clássico e sua comparação com o fenótipo variante

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A doença de Niemann-Pick tipo C (NPC) é uma esfingolipidose autossômica recessiva que se caracteriza pelo acúmulo lisossômico de colesterol não-esterificado em vários tecidos, resultando em neurodegeneração progressiva, hepatoesplenomegalia e paralisia ocular vertical, entre outros sintomas. Sua man...

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Bibliographic Details
Main Author:	Andrade, Carla Vieira
Other Authors:	Coelho, Janice Carneiro
Format:	Others
Language:	Portuguese
Published:	2012
Subjects:	Erros inatos do metabolismo Doença de Niemann-Pick tipo C Diagnóstico Fibroblastos Colesterol Esfingomielina fosfodiesterase Niemann-pick disease type C Fibroblasts Intracellular cholesterol Filipin test Acid sphingomyelinase
Online Access:	http://hdl.handle.net/10183/60939

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