A rare cause of hepatomegaly and dyslipidemia: lysosomal acid lipase deficiency
Background. Lysosomal acid lipase deficiency (LAL-D), also known as cholesteryl ester storage disease or Wolman disease, is a multi-systemic autosomal recessive genetic disorder caused by mutations in the lysosomal acid lipase gene (LIPA). Case. A 14-year-old female patient was diagnos...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2020-10-01
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| Series: | The Turkish Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://turkjpediatr.org/article/view/520 |
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