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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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Foilsithe in:Appl Clin Genet
Main Authors: Su, Kim, Donaldson, Emma, Sharma, Reena
Formáid: Artigo
Teanga:Inglês
Foilsithe: Dove Medical Press 2016
Ábhair:
Rochtain Ar Líne: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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