Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups.

@article{Scott2013FrequencyOT,
  title={Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups.},
  author={Stuart A. Scott and Benny Liu and Irina Nazarenko and Suparna Martis and Julia Kozlitina and Yao Yang and Charina M. Ramirez and Yumi Kasai and Tommy Hyatt and Inga Peter and Robert J Desnick},
  journal={Hepatology},
  year={2013},
  volume={58 3},
  pages={958-65}
}
UNLABELLED Cholesteryl ester storage disease (CESD) and Wolman disease are autosomal recessive later-onset and severe infantile disorders, respectively, which result from the deficient activity of lysosomal acid lipase (LAL). LAL is encoded by LIPA (10q23.31) and the most common mutation associated with CESD is an exon 8 splice junction mutation (c.894G>A; E8SJM), which expresses only ∼3%-5% of normally spliced LAL. However, the frequency of c.894G>A is unknown in most populations. To estimate… CONTINUE READING

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Recombinant human lysosomal acid lipase (LAL) demonstrates pharmacodynamic activity in cholesteryl ester storage disease (CESD), the late onset form of LAL deficiency

  • S Jones, G Enns, M Balwani, C Breen, R Sharma, P Deegan
  • Society for the Study of Inborn Errors of…
  • 2012
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