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Lysosomal acid lipase deficiency—a cautious leap forward

Nature Reviews Endocrinology volume 11, pages 696697 (2015) | Download Citation

Lysosomal acid lipase deficiency can lead to liver failure and early death. A recently published placebo-controlled trial shows that enzyme-replacement therapy improves plasma levels of lipids and aminotransferases, and reduces liver fat content. However, the effect on clinical end points and an appropriate indication for treatment remain to be established.

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Author information


  1. Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, PO Box 22660, 1100 DD Amsterdam 16:35, Netherlands.

    • Carla E. M. Hollak
  2. Department of Internal Medicine, Division of Vascular Medicine, Academic Medical Center, PO Box 22660, 1100 DD Amsterdam 16:35, Netherlands.

    • G. Kees Hovingh


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Competing interests

C.E.M.H. declares that the Academic Medical Center (AMC), Amsterdam, Netherlands, has received educational and research grants from Genzyme and Shire, and that she is an advisor for the Dutch Medicines Evaluation Board (CBG–MEB). G.K.H. declares that the Academic Medical Center (AMC), Amsterdam, Netherlands, has received grant support for clinical trials and consulting fees and/or honoraria from Amgen, Pfizer, Sanofi and Synageva.

Corresponding author

Correspondence to Carla E. M. Hollak.

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