Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum

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...

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Detalles Bibliográficos
Autores principales: Curiati, Marco Antonio, Kyosen, Sandra Obikawa, Pereira, Vanessa Gonçalves, Patrício, Francy Reis da Silva, Martins, Ana Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5828415/
https://www.ncbi.nlm.nih.gov/pubmed/29527374
http://dx.doi.org/10.1155/2018/4375434

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5828415/
https://www.ncbi.nlm.nih.gov/pubmed/29527374
http://dx.doi.org/10.1155/2018/4375434

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