Assessing Niemann-Pick Type C (NP-C) through a multi-omics approach genomic and transcriptomic profile of challenging cases

Niemann-Pick type C (NP-C) is a neurodegenerative Inherited Metabolic Disease with a heterogeneous clinical presentation, due to mutations in either the NPC1 or NPC2 genes. We studied patients with clinical diagnosis of NP-C but presenting inconclusive results regarding biomarkers testing and molecu...

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Bibliographic Details
Main Author: Encarnação, Marisa (author)
Other Authors: Coutinho, Maria Francisca (author), Cho, Soo-Min (author), Cardoso, Maria Teresa (author), Chaves, Paulo (author), Ribeiro, Isaura (author), Santos, Juliana Inês (author), Gaspar, Paulo (author), Quelhas, Dulce (author), Lacerda, Lúcia (author), Leão-Teles, Elisa (author), Futerman, Anthony H. (author), Vilarinho, Laura (author), Alves, Sandra (author)
Format: conferenceObject
Language:eng
Published: 2020
Subjects:
Niemann-Pick type C
Functional studies
Lysosomal Storage Diseases
Genetic Diseases
Doenças Genéticas
Online Access:http://hdl.handle.net/10400.18/6966
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/6966

Internet

http://hdl.handle.net/10400.18/6966

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