Dergiler / Turkish Journal of Gastroenterology / 2018 / Cilt: 29 - Sayı: 4

A rare cause of hepatomegaly in the childhood: Lysosomal acid lipase deficiency

Sayfa
518–519
DOI
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Bu Makaleye Atıf Yap

HAZNEDAR, P., KULOĞLU, Z., KANSU, A., EMİNOĞLU, F. (2018). A rare cause of hepatomegaly in the childhood: Lysosomal acid lipase deficiency. Turkish Journal of Gastroenterology, Cilt: 29 - Sayı: 4, 518–519. https://ajindex.com/articles/410107

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Kaynakça (4)

  1. Himes RW, Barlow SE, Bove K, Quintanilla NM, Sheridan R, Kohli R. Lysosomal Acid Lipase Deficiency Unmasked in Two Children with Nonalcoholic Fatty Liver Disease. Pediatrics 2016; 138. Freudenberg F, Bufler P, Ensenauer R, Lohse P, Koletzko S. Cholesteryl ester storage disease: an easily missed diagnosis in oligosymptomatic children. Z Gastroenterol 2013; 51: 1184-7.
  2. Bernstein DL, Hulkova H, Bialer MG, Desnick RJ. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol 2013; 58: 1230-43.
  3. Scott SA, Liu B, Nazarenko I, et al. Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups. Hepatology 2013; 58: 958-65.
  4. Burton BK, Balwani M, Feillet F, et al. A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency. N Engl J Med 2015; 373: 1010-20.