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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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
Gastro LLC
2025-02-01
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| Series: | Российский журнал гастроэнтерологии, гепатологии, колопроктологии |
| Subjects: | |
| Online Access: | https://www.gastro-j.ru/jour/article/view/1360 |
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