Clinical guidelines for the management of children with lysosomal acid lipase deficiency

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...

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Main Authors:	Inga V. Anisimova, Marina B. Albegova, Madlena E. Bagaeva, Galina V. Baidakova, Aleksandr A. Baranov, Nato D. Vashakmadze, Elena A. Vishneva, Olga S. Gundobina, Anna V. Degtiareva, Marat V. Ezhov, Maria S. Zharkova, Nataliia V. Zhurkova, Ekaterina Yu. Zaharova, Vladimir T. Ivashkin, Elena A. Kamenets, Sergey I. Kutzev, Alla E. Lavrova, Irina A. Matinian, Svetlana V. Mikhailova, Leyla S. Namazova-Baranova, Irina E. Pashkova, Elena E. Petriaykina, Tatiana M. Pervunina, Nataliia L. Pechatnikova, Nelia S. Pogosian, Svetlana A. Repina, Lilia R. Selimzianova, Tamara A. Skvortsova, Tatiana V. Strokova, Dmitriy M. Subbotin, Andrey N. Surkov, Elena L. Tumanova, Ekaterina G. Tzimbalova
Format:	Article
Language:	Russian
Published:	Union of pediatricians of Russia 2023-08-01
Series:	Педиатрическая фармакология
Subjects:	lysosomal acid lipase deficiency wolman disease cholesterol ester storage disease diagnostics management enzyme replacement therapy children
Online Access:	https://www.pedpharma.ru/jour/article/view/2342
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Clinical guidelines for the management of children with lysosomal acid lipase deficiency

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