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Novel treatment options for lysosomal acid lipase deficiency: critical appraisal of sebelipase alfa
Lysosomal acid lipase deficiency (LAL-D) is a rare disorder of cholesterol metabolism with an autosomal recessive mode of inheritance. The absence or deficiency of the LAL enzyme gives rise to pathological accumulation of cholesterol esters in various tissues. A severe LAL-D phenotype manifesting in...
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| Vydáno v: | Appl Clin Genet |
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| Hlavní autoři: | , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Dove Medical Press
2016
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5074735/ https://ncbi.nlm.nih.gov/pubmed/27799810 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S86760 |
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