The Incidence of Lysosomal Acid Lipase Deficiency in the Russian Population

The Incidence of Lysosomal Acid Lipase Deficiency in the Russian Population

Lysosomal acid lipase deficiency is a rare hereditary progressive disease of lipid metabolism leading to the development of atherosclerosis, hepatosplenomegaly, liver cirrhosis, malabsorption, and other symptoms. In the absence of specific treatment, the prognosis for the patient is unfavourable, so...

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Bibliographic Details
Main Authors: Mikhail А. Fedyakov, Yuriy А. Barbitov, Elena A. Serebryakova, Тatiana M. Pervunina, Nikolay N. Vlasov, Еlena А. Kornienko, Аndrey S. Glotov, Аndrey М. Sarana, Sergey G. Shcherbak, Оleg S. Glotov
Format: Article
Language:English
Published: Paediatrician Publishers, LLC 2018-05-01
Series:Pediatričeskaâ Farmakologiâ
Subjects:
lysosomal acid lipase deficiency
accumulation diseases
mutations
incidence
children
Online Access:https://www.pedpharma.ru/jour/article/view/1622
Description
Summary:Lysosomal acid lipase deficiency is a rare hereditary progressive disease of lipid metabolism leading to the development of atherosclerosis, hepatosplenomegaly, liver cirrhosis, malabsorption, and other symptoms. In the absence of specific treatment, the prognosis for the patient is unfavourable, so timely diagnosis of the disease is extremely important. The incidence of lysosomal acid lipase deficiency in the Russian Federation is unknown. Given its rarity, there is a high probability of hypodiagnosis. In this regard, the presented results of the study of this disease prevalence are of particular relevance.
ISSN:1727-5776
2500-3089

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