A rare cause of hepatomegaly in the childhood: Lysosomal acid lipase deficiency.
作者信息
Haznedar Pınar, Kuloğlu Zarife, Kansu Aydan, Eminoğlu F Tuba
机构信息
Department of Pediatrics, Ankara University School of Medicine, Ankara.
Department of Pediatric Gastroenterology, Ankara University School of Medicine, Ankara, Turkey.
出版信息
Turk J Gastroenterol. 2018 Jul;29(4):518-519. doi: 10.5152/tjg.2018.17492.
Abstract
摘要
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本文引用的文献
1
Lysosomal Acid Lipase Deficiency Unmasked in Two Children With Nonalcoholic Fatty Liver Disease.两名非酒精性脂肪性肝病患儿中发现溶酶体酸性脂肪酶缺乏症
Pediatrics. 2016 Oct;138(4). doi: 10.1542/peds.2016-0214. Epub 2016 Sep 13.
2
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.司贝前列素 α 在溶酶体酸性脂肪酶缺乏症中的 3 期临床试验。
N Engl J Med. 2015 Sep 10;373(11):1010-20. doi: 10.1056/NEJMoa1501365.
3
Cholesteryl ester storage disease: an easily missed diagnosis in oligosymptomatic children.胆固醇酯贮积病：在症状轻微的儿童中易被漏诊。
Z Gastroenterol. 2013 Oct;51(10):1184-7. doi: 10.1055/s-0033-1350463. Epub 2013 Oct 11.
4
Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease.胆固醇酯贮积症：135 例报道患者的发现回顾——一种被低估的疾病。
J Hepatol. 2013 Jun;58(6):1230-43. doi: 10.1016/j.jhep.2013.02.014. Epub 2013 Feb 26.
5
Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups.载脂蛋白 E 代谢障碍症常见 LIPA E8SJM 突变（c.894G>A）在不同种族和民族中的频率。
Hepatology. 2013 Sep;58(3):958-65. doi: 10.1002/hep.26327. Epub 2013 Jul 29.
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