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Difference between revisions of "Lysosomal acid lipase deficiency"
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Lysosomal acid lipase deficiency (view source)
Revision as of 16:10, 12 June 2017
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Treatment: | Treatment: | ||
*Sebelipase alfa - a replacement enzyme. | *Sebelipase alfa - a replacement enzyme.<ref name=pmid27878737>{{Cite journal | last1 = Frampton | first1 = JE. | title = Sebelipase Alfa: A Review in Lysosomal Acid Lipase Deficiency. | journal = Am J Cardiovasc Drugs | volume = 16 | issue = 6 | pages = 461-468 | month = Dec | year = 2016 | doi = 10.1007/s40256-016-0203-2 | PMID = 27878737 }}</ref><ref name=pmid26352813>{{Cite journal | last1 = Burton | first1 = BK. | last2 = Balwani | first2 = M. | last3 = Feillet | first3 = F. | last4 = Barić | first4 = I. | last5 = Burrow | first5 = TA. | last6 = Camarena Grande | first6 = C. | last7 = Coker | first7 = M. | last8 = Consuelo-Sánchez | first8 = A. | last9 = Deegan | first9 = P. | title = A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency. | journal = N Engl J Med | volume = 373 | issue = 11 | pages = 1010-20 | month = Sep | year = 2015 | doi = 10.1056/NEJMoa1501365 | PMID = 26352813 }}</ref> | ||
==Gross== | ==Gross== | ||
*[[ | *Hepatosplenomegaly (hepatomegaly, [[splenomegaly]]). | ||
==Microscopic== | ==Microscopic== | ||