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

• Váldodahkkit: Inga V. Anisimova (Dahkki), Marina B. Albegova (Dahkki), Madlena E. Bagaeva (Dahkki), Galina V. Baidakova (Dahkki), Aleksandr A. Baranov (Dahkki), Nato D. Vashakmadze (Dahkki), Elena A. Vishneva (Dahkki), Olga S. Gundobina (Dahkki), Anna V. Degtiareva (Dahkki), Marat V. Ezhov (Dahkki), Maria S. Zharkova (Dahkki), Nataliia V. Zhurkova (Dahkki), Ekaterina Yu. Zaharova (Dahkki), Vladimir T. Ivashkin (Dahkki), Elena A. Kamenets (Dahkki), Sergey I. Kutzev (Dahkki), Alla E. Lavrova (Dahkki), Irina A. Matinian (Dahkki), Svetlana V. Mikhailova (Dahkki), Leyla S. Namazova-Baranova (Dahkki), Irina E. Pashkova (Dahkki), Elena E. Petriaykina (Dahkki), Tatiana M. Pervunina (Dahkki), Nataliia L. Pechatnikova (Dahkki), Nelia S. Pogosian (Dahkki), Svetlana A. Repina (Dahkki), Lilia R. Selimzianova (Dahkki), Tamara A. Skvortsova (Dahkki), Tatiana V. Strokova (Dahkki), Dmitriy M. Subbotin (Dahkki), Andrey N. Surkov (Dahkki), Elena L. Tumanova (Dahkki), Ekaterina G. Tzimbalova (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: Union of pediatricians of Russia, 2023-08-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

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...