I. Anisimova, M. Albegova, M. Bagaeva, G. Baidakova, A. A. Baranov, N. Vashakmadze, E. Vishneva, O. Gundobina, A. Degtiareva, M. Ezhov, M. Zharkova, N. V. Zhurkova, E. Zaharova, V. Ivashkin, E. Kamenets, S. I. Kutzev, A. E. Lavrova, Irina A. Matinian, S. Mikhailova, L. Namazova-Baranova, I. Pashkova, E. Petriaykina, T. Pervunina, Nataliia L. Pechatnikova, Nelia S. Pogosian, S. Repina, L. Selimzianova, T. Skvortsova, T. Strokova, Dmitriy M. Subbotin, A. Surkov, E. Tumanova, Ekaterina G. Tzimbalova
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Abstract
Lysosomal acid lipase deficiency is s a rare hereditary enzymopathy. The article presents epidemiological data and features of etiopathogenesis of two phenotypic forms of lysosomal acid lipase deficiency — Wolman disease and cholesterol ester storage disease. Special attention has been given to the key issues of differential diagnostic search, clinical guidelines based on the principles of evidence-based medicine have been given.
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