Genetically Modulated Substrate Reduction Therapy for Sanfilippo syndrome – proof of principle

Introduction: Mucopolysaccharidosis type III (MPS III) refers to a group of five autosomal recessive neurodegenerative lysosomal storage disorders caused by the incomplete lysosomal degradation of the heparan sulphate (HS) that accumulates in patient cells and triggers disease. The main characterist...

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Detalhes bibliográficos
Autor principal: Santos, J.I. (author)
Outros Autores: Coutinho, Maria Francisca (author), Gaspar, P. (author), Alves, S. (author)
Formato: conferenceObject
Idioma:eng
Publicado em: 2021
Assuntos:
Lysosomal Storage Diseases
Mucopilysaccharidoses
Substrate Reduction Therapy
RNAi
Doenças Genéticas
Genética Humana
Texto completo:http://hdl.handle.net/10400.18/7454
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/7454

Texto Completo

http://hdl.handle.net/10400.18/7454

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