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Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency.
Hum Mutat. 2019 Nov;40(11):2007-2020. doi: 10.1002/humu.23837. Epub 2019 Jul 12.
Hum Mutat. 2019.
PMID: 31180157
Free PMC article.
Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction.
Reiner Ž, Guardamagna O, Nair D, Soran H, Hovingh K, Bertolini S, Jones S, Ćorić M, Calandra S, Hamilton J, Eagleton T, Ros E.
Reiner Ž, et al.
Atherosclerosis. 2014 Jul;235(1):21-30. doi: 10.1016/j.atherosclerosis.2014.04.003. Epub 2014 Apr 15.
Atherosclerosis. 2014.
PMID: 24792990
Free article.
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