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Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals
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Gasche C, Aslanidis C, Kain R, Exner M, Helbich T, Dejaco C, Schmitz G, Ferenci P (1997)
A novel variant of lysosomal acid lipase in cholesteryl ester storage disease associated with mild phenotype and improvement on lovastatin
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Rothe G, Stohr J, Fehringer P, Gasche C, Schmitz G (1997)
Altered mononuclear phagocyte differentiation associated with genetic defects of the lysosomal acid lipase
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