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Recent insights into lysosomal acid lipase deficiency
Lysosomal acid lipase (LAL) is the sole enzyme known to degrade neutral lipids in the lysosome. Mutations in the LAL-encoding LIPA gene lead to rare lysosomal lipid storage disorders with complete or partial absence of LAL activity. This review discusses the consequences of defective LAL-mediated li...
Tallennettuna:
| Julkaisussa: | Trends Mol Med |
|---|---|
| Päätekijät: | , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
2023
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7614602/ https://ncbi.nlm.nih.gov/pubmed/37028992 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.molmed.2023.03.001 |
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