Hindawi, Case Reports in Pediatrics, (2018), p. 1-5, 2018
DOI: 10.1155/2018/4375434
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Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in theLIPAgene 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.