Practical recommendations for diagnosis, management, and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspective

Practical recommendations for diagnosis, management, and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspective

Niemann-Pick type-C (NPC) disease is a rare genetic condition with a clinical spectrum ranging from a fatal prenatally-presenting and quickly lethal disorder to an adult-onset chronic neurodegenerative condition. Given the scarcity of information regarding NPC disease in Brazil, a group of experts d...

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Bibliographic Details
Main Authors:	Dafne Dain Gandelman Horovitz, André Pessoa, Marcondes Cavalcante França Junior, Roberto Giugliani, Carolina Fischinger Moura de Souza, Emília Katiane Embiruçu, Pedro Braga-Neto, Charles Marques Lourenço
Format:	Article
Language:	English
Published:	Thieme Revinter Publicações 2025-03-01
Series:	Arquivos de Neuro-Psiquiatria
Subjects:	Practice Guideline Niemann-Pick Disease, Type C Brazil Lysosomal Storage Diseases
Online Access:	http://www.thieme-connect.de/DOI/DOI?10.1055/s-0045-1807714
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