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
{"title":"溶酶体酸性脂肪酶缺乏症患儿的临床治疗指南","authors":"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","doi":"10.15690/pf.v20i4.2602","DOIUrl":null,"url":null,"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.","PeriodicalId":19997,"journal":{"name":"Pediatric pharmacology","volume":"154 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Clinical guidelines for the management of children with lysosomal acid lipase deficiency\",\"authors\":\"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\",\"doi\":\"10.15690/pf.v20i4.2602\",\"DOIUrl\":null,\"url\":null,\"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.\",\"PeriodicalId\":19997,\"journal\":{\"name\":\"Pediatric pharmacology\",\"volume\":\"154 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-08-22\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatric pharmacology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.15690/pf.v20i4.2602\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric pharmacology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.15690/pf.v20i4.2602","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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 key issues of differential diagnostic search, clinical guidelines based on the principles of evidence-based medicine have been given.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
