Abstract |
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.
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Authors | Marco Antonio Curiati, Sandra Obikawa Kyosen, Vanessa Gonçalves Pereira, Francy Reis da Silva Patrício, Ana Maria Martins |
Journal | Case reports in pediatrics
(Case Rep Pediatr)
Vol. 2018
Pg. 4375434
( 2018)
ISSN: 2090-6803 [Print] United States |
PMID | 29527374
(Publication Type: Case Reports)
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