Clinical guidelines for the management of children with lysosomal acid lipase deficiency-Reference-Cited by-同舟云学术

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

Published:2023-08-22 Issue:4 Volume:20 Page:337-354
ISSN:2500-3089
Container-title:Pediatric pharmacology
language:
Short-container-title:Pediatr. farmakol.

Author:

Anisimova Inga V.¹,Albegova Marina B.²^ORCID,Bagaeva Madlena E.³^ORCID,Baidakova Galina V.¹^ORCID,Baranov Aleksandr A.⁴^ORCID,Vashakmadze Nato D.⁵^ORCID,Vishneva Elena A.⁵^ORCID,Gundobina Olga S.⁶,Degtiareva Anna V.⁷^ORCID,Ezhov Marat V.⁸^ORCID,Zharkova Maria S.⁹^ORCID,Zhurkova Nataliia V.⁶^ORCID,Zaharova Ekaterina Yu.¹^ORCID,Ivashkin Vladimir T.⁹^ORCID,Kamenets Elena A.¹,Kutzev Sergey I.¹^ORCID,Lavrova Alla E.¹⁰^ORCID,Matinian Irina A.³^ORCID,Mikhailova Svetlana V.¹¹^ORCID,Namazova-Baranova Leyla S.⁵^ORCID,Pashkova Irina E.¹²^ORCID,Petriaykina Elena E.¹³^ORCID,Pervunina Tatiana M.¹⁴^ORCID,Pechatnikova Nataliia L.¹⁵^ORCID,Pogosian Nelia S.¹⁶,Repina Svetlana A.¹^ORCID,Selimzianova Lilia R.¹⁷^ORCID,Skvortsova Tamara A.¹⁵^ORCID,Strokova Tatiana V.³^ORCID,Subbotin Dmitriy M.¹,Surkov Andrey N.⁵^ORCID,Tumanova Elena L.¹⁸^ORCID,Tzimbalova Ekaterina G.¹¹^ORCID

Affiliation:

1. N.P. Bochkov Medical Genetics Research Centre

2. V.I. Kulakov National Medical Scientific Centre of Obstetrics, Gynaecology and Perinatal Medicine

3. Federal Research Centre of Nutrition, Biotechnology and Food Safety

4. Research Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery; I.M. Sechenov Moscow Medical Academy

5. Research Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery; N.I. Pirogov Russian National Research Medical University

6. Research Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery

7. V.I. Kulakov National Medical Scientific Centre of Obstetrics, Gynaecology and Perinatal Medicine; I.M. Sechenov Moscow Medical Academy

8. A.L. Miasnikov Scientific Research Institute of Clinical Cardiology of National Medical Research Center of Cardiology

9. I.M. Sechenov Moscow Medical Academy

10. Privolzhsky Research Medical University

11. Russian Children's Clinical Hospital

12. V.I. Shumakov National Medical Research Centre of Transplantology and Artificial Organs

13. N.I. Pirogov Russian National Research Medical University; Russian Children's Clinical Hospital; Peoples' Friendship University of Russia

14. V.A. Almazov National Medical Research Centre

15. Morozov Children's City Clinical Hospital

16. All Russia Association of the Orphan Diseases

17. Research Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery; I.M. Sechenov Moscow Medical Academy; N.I. Pirogov Russian National Research Medical University

18. N.I. Pirogov Russian National Research Medical University

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.

Publisher

Paediatrician Publishers LLC

Subject

Pulmonary and Respiratory Medicine,Pediatrics, Perinatology and Child Health

Reference49 articles.

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