Lysosomal acid lipase A and the hypercholesterolaemic phenotype.

  title={Lysosomal acid lipase A and the hypercholesterolaemic phenotype.},
  author={Sigrid W. Fouchier and Joep C. Defesche},
  journal={Current opinion in lipidology},
  volume={24 4},
PURPOSE OF REVIEW Mutations in lysosomal acid lipase A (LIPA) result in two phenotypes depending on the extent of lysosomal acid lipase (LAL) deficiency: the severe, early-onset Wolman disease or the less severe cholesteryl ester storage disease (CESD). In CESD, the severity of the symptoms, hepatomegaly and hypercholesterolaemia, can be highly variable, presenting in childhood or adulthood. Therefore, it is likely that many patients are undiagnosed or misdiagnosed. Nevertheless, LAL deficiency… CONTINUE READING
Recent Discussions
This paper has been referenced on Twitter 3 times over the past 90 days. VIEW TWEETS

From This Paper

Figures, tables, results, connections, and topics extracted from this paper.
19 Extracted Citations
65 Extracted References
Similar Papers

Citing Papers

Publications influenced by this paper.
Showing 1-10 of 19 extracted citations

Referenced Papers

Publications referenced by this paper.
Showing 1-10 of 65 references

A genome - wide association study in Europeans and South Asians identifies five new loci for coronary artery disease

  • PS Wild, T Zeller, A Schillert
  • Nat Genet
  • 2011

Efficacy of SBC-102, a recombinant enzyme replacement therapy, across a broad range of doses in an in vivo model of lysosomal acid lipase deficiency [abstract

  • M Leavitt, W Hu, D Canty
  • J Pediatr Gastroenterol Nutr
  • 2011

Similar Papers

Loading similar papers…