Ontology highlight
ABSTRACT:
SUBMITTER: Curiati MA
PROVIDER: S-EPMC5828415 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Curiati Marco Antonio MA Kyosen Sandra Obikawa SO Pereira Vanessa Gonçalves VG Patrício Francy Reis da Silva FRDS Martins Ana Maria AM
Case reports in pediatrics 20180121
Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the <i>LIPA</i> 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. ...[more]