Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum
Arquivos
Data
2018
Autores
Curiati, Marco Antonio 
Kyosen, Sandra Obikawa
Pereira, Vanessa Goncalves
da Silva Patricio, Francy Reis
Martins, Ana Maria
Tipo
Artigo
Título da Revista
ISSN da Revista
Título de Volume
Resumo
Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality. We present retrospective data from medical records of 5 Brazilian patients, showing the broad clinical spectrum of the disease.
Descrição
Citação
Case Reports In Pediatrics. London, v. , p. -, 2018.