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

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.

SUBMITTER: Curiati MA 

PROVIDER: S-EPMC5828415 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature