Data/hora: 03/06/2024 17:53:11

Provedor de dados: | 74
País: | Brazil
Título: | Lysosomal diseases: Overview on current diagnosis and treatment
Autores: | Poswar,Fabiano de Oliveira; Vairo,Filippo; Burin,Maira; Michelin-Tirelli,Kristiane; Brusius-Facchin,Ana Carolina; Kubaski,Francyne; Souza,Carolina Fischinger Moura de; Baldo,Guilherme; Giugliani,Roberto.
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
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200165
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
Fonte: | info:eu-repo/semantics/openAccess