Results of Selective Biochemical Screening for Lysosomal Acid Lipase Deficiency and Sequencing of the <i>LIPA</i> Gene in the Risk Group Patients

Results of Selective Biochemical Screening for Lysosomal Acid Lipase Deficiency and Sequencing of the <i>LIPA</i> Gene in the Risk Group Patients

Aim: to study the prevalence of lysosomal acid lipase deficiency (Wolman disease and cholesteryl ester storage disease) among high-risk patients using selective biochemical screening.Material and methods. Samples from 2805 patients are collected as dried blood spots on filter paper test forms. Bioch...

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Bibliographic Details
Main Authors: S. V. Shtykalova, A. A. Egorova, O. S. Glotov, A. V. Kiselev, I. Yu. Kogan
Format: Article
Language:Russian
Published: Gastro LLC 2025-02-01
Series:Российский журнал гастроэнтерологии, гепатологии, колопроктологии
Subjects:
lysosomal acid lipase deficiency
wolman disease
cholesteryl ester storage disease
lysosomal storage diseases
ngs
<i>lipa</i> gene
Online Access:https://www.gastro-j.ru/jour/article/view/1360
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