Transcriptional regulation of lysosomal acid lipase in differentiating monocytes is mediated by transcription factors Sp1 and AP-2 von Ries, S, Büchler, C, Langmann, T, Fehringer, P, Aslanidis, C, Schmitz, G

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Genetic and Biochemical Evidence That CESD and Wolman Disease Are Distinguished by Residual Lysosomal Acid Lipase Activity von Aslanidis, Charalampos, Ries, Stefan, Fehringer, Petra, Büchler, Christa, Klima, Horst, Schmitz, Gerd

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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 von Ries, Stefan, Büchler, Christa, Schindler, Gisela, Aslanidis, Charalampos, Ameis, Detlev, Gasche, Christoph, Jung, Nikola, Schambach, Axel, Fehringer, Petra, Vanier, Marie T., Belli, Dominique C., Greten, Heiner, Schmitz, Gerd

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A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease von KLIMA, H, ULLRICH, K, ASLANIDIS, C, FEHRINGER, P, LACKNER, K. J, SCHMITZ, G

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Purification, cloning, and expression of a human enzyme with acyl coenzyme A : cholesterol acyltransferase activity, which is identical to liver carboxylesterase von BECKER, A, BÖTTCHER, A, LACKNER, K. J, FEHRINGER, P, NOTKA, F, ASLANIDIS, C, SCHMITZ, G

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A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred von Ries, S, Aslanidis, C, Fehringer, P, Carel, J C, Gendrel, D, Schmitz, G

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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 von Ries, S, Büchler, C, Schindler, G, Aslanidis, C, Ameis, D, Gasche, C, Jung, N, Schambach, A, Fehringer, P, Vanier, M T, Belli, D C, Greten, H, Schmitz, G

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Altered mononuclear phagocyte differentiation associated with genetic defects of the lysosomal acid lipase von Rothe, Gregor, Stöhr, Josef, Fehringer, Petra, Gasche, Christoph, Schmitz, Gerd

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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 von Ries, Stefan, Büchler, Christa, Schindler, Gisela, Aslanidis, Charalampos, Ameis, Detlev, Gasche, Christoph, Jung, Nikola, Schambach, Axel, Fehringer, Petra, Vanier, Marie T., Belli, Dominique C., Greten, Heiner, Schmitz, Gerd

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