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Lysosomal diseases: Overview on current diagnosis and treatment

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 t...

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Autors principals: Fabiano de Oliveira Poswar, Filippo Vairo, Maira Burin, Kristiane Michelin-Tirelli, Ana Carolina Brusius-Facchin, Francyne Kubaski, Carolina Fischinger Moura de Souza, Guilherme Baldo, Roberto Giugliani
Format: Artigo
Idioma:Inglês
Publicat: Sociedade Brasileira de Genética 2019-04-01
Col·lecció:Genetics and Molecular Biology
Matèries:
Lysosomal storage diseases
neonatal screening
hematopoietic stem cell transplantation
enzyme replacement therapy
gene therapy
Accés en línia:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005019403&lng=en&tlng=en
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