| Registro completo |
| Provedor de dados: |
Genet. Mol. Biol.
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| País: |
Brazil
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| Título: |
Lysosomal diseases: Overview on current diagnosis and treatment
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| 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
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| Data: |
2019-01-01
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| Ano: |
2019
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| Palavras-chave: |
Lysosomal storage diseases
Neonatal screening
Hematopoietic stem cell transplantation
Enzyme replacement therapy
Gene therapy
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| 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.
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| Tipo: |
Info:eu-repo/semantics/article
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| Idioma: |
Inglês
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| Identificador: |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200165
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| Editor: |
Sociedade Brasileira de Genética
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| Relação: |
10.1590/1678-4685-gmb-2018-0159
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| Formato: |
text/html
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| Fonte: |
Genetics and Molecular Biology v.42 n.1 suppl.1 2019
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| Direitos: |
info:eu-repo/semantics/openAccess
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