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Xu, C. Lysosomal Acid Lipase Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4559 (accessed on 20 September 2026).
Xu C. Lysosomal Acid Lipase Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4559. Accessed September 20, 2026.
Xu, Camila. "Lysosomal Acid Lipase Deficiency" Encyclopedia, https://encyclopedia.pub/entry/4559 (accessed September 20, 2026).
Xu, C. (2020, December 24). Lysosomal Acid Lipase Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/4559
Xu, Camila. "Lysosomal Acid Lipase Deficiency." Encyclopedia. Web. 24 December, 2020.
Lysosomal Acid Lipase Deficiency
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Lysosomal acid lipase deficiency is an inherited condition characterized by problems with the breakdown and use of fats and cholesterol in the body (lipid metabolism).

genetic conditions

References

  1. Burton BK, Deegan PB, Enns GM, Guardamagna O, Horslen S, Hovingh GK, Lobritto SJ, Malinova V, McLin VA, Raiman J, Di Rocco M, Santra S, Sharma R,Sykut-Cegielska J, Whitley CB, Eckert S, Valayannopoulos V, Quinn AG. ClinicalFeatures of Lysosomal Acid Lipase Deficiency. J Pediatr Gastroenterol Nutr. 2015 Dec;61(6):619-25. doi: 10.1097/MPG.0000000000000935.
  2. Reiner Ž, Guardamagna O, Nair D, Soran H, Hovingh K, Bertolini S, Jones S,Ćorić M, Calandra S, Hamilton J, Eagleton T, Ros E. Lysosomal acid lipasedeficiency--an under-recognized cause of dyslipidaemia and liver dysfunction.Atherosclerosis. 2014 Jul;235(1):21-30. doi:10.1016/j.atherosclerosis.2014.04.003.
  3. Saito S, Ohno K, Suzuki T, Sakuraba H. Structural bases of Wolman disease and cholesteryl ester storage disease. Mol Genet Metab. 2012 Feb;105(2):244-8. doi:10.1016/j.ymgme.2011.11.004.
  4. Zhang B, Porto AF. Cholesteryl ester storage disease: protean presentations oflysosomal acid lipase deficiency. J Pediatr Gastroenterol Nutr. 2013Jun;56(6):682-5. doi: 10.1097/MPG.0b013e31828b36ac. Review.
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Update Date: 24 Dec 2020
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