Sabiia Seb
        Busca avançada

Botão Atualizar

Botão Atualizar

Registro completo
Provedor de dados:  74
País:  Brazil
Título:  Lysosomal diseases: Overview on current diagnosis and treatment
Autores:  Poswar,Fabiano de Oliveira
Brusius-Facchin,Ana Carolina
Souza,Carolina Fischinger Moura de
Data:  2019-01-01
Ano:  2019
Palavras-chave:  Lysosomal storage diseases
Neonatal screening
Hematopoietic stem cell transplantation
Enzyme replacement therapy
Gene therapy
Resumo:  Abstract Lysosomal diseases (LDs), also known as lysosomal storage diseases (LSDs), are a heterogeneous group of conditions caused by defects in lysosomal function. LDs may result from deficiency of lysosomal hydrolases, membrane-associated transporters or other non-enzymatic proteins. Interest in the LD field is growing each year, as more conditions are, or will soon be treatable. In this article, we review the diagnosis of LDs, from clinical suspicion and screening tests to the identification of enzyme or protein deficiencies and molecular genetic diagnosis. We also cover the treatment approaches that are currently available or in development, including hematopoietic stem cell transplantation, enzyme replacement therapy, small molecules, and gene therapy.
Tipo:  Info:eu-repo/semantics/article
Idioma:  Inglês
Editor:  Sociedade Brasileira de Genética
Relação:  10.1590/1678-4685-gmb-2018-0159
Formato:  text/html
Fonte:  Genetics and Molecular Biology v.42 n.1 suppl.1 2019
Direitos:  info:eu-repo/semantics/openAccess

Empresa Brasileira de Pesquisa Agropecuária - Embrapa
Todos os direitos reservados, conforme Lei n° 9.610
Política de Privacidade
Área restrita

Parque Estação Biológica - PqEB s/n°
Brasília, DF - Brasil - CEP 70770-901
Fone: (61) 3448-4433 - Fax: (61) 3448-4890 / 3448-4891 SAC:

Valid HTML 4.01 Transitional