Clinical case of lysosomic acid lipase deficiency – cholesterol ethers accumulation diseases

Lysosomal acid lipase deficiency is a rare hereditary fermentopathy. Cholesterol ester accumulation disease – one of the two forms of lysosomal acid lipase deficiency – is a hereditary autosomal recessive lysosomal accumulation disease caused by mutations in the gene responsible for lysosomal acid l...

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Bibliographic Details
Main Authors: E. V. Savelieva, A. P. Pakhomov, A. A. Vyalkova, V. V. Tyrsin, I. V. Zorin, E. V. Azarova, A. I. Meshcheryakova
Format: Article
Language:Russian
Published: Open Systems Publication 2022-10-01
Series:Лечащий Врач
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Online Access:https://journal.lvrach.ru/jour/article/view/943
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