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Hypercholesterolaemia and hepatosplenomegaly: Two manifestations of cholesteryl ester storage disease

Autor: Barbara Sjouke, Stappen, J. W. J., Groener, J. E. M., Pepping, A., Wevers, R. A., Gouw, A., Dikkeschei, L. D., Mijnhout, S., Hovingh, G. K., Alleman, M. A.

Publikováno v: Scopus-Elsevier
Netherlands Journal of Medicine, 73, 129-132
Netherlands journal of medicine, 73(3), 129-132. Van Zuiden Communications BV
Netherlands Journal of Medicine, 73, 3, pp. 129-132

Cholesteryl ester storage disease (CESD) is a rare autosomal recessive disease caused by mutations in LIPA. Here we describe two different clinical presentations of this disease: one case with a clear phenotype of familial hypercholesterolaemia and o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::219326185fbe4faef6d770b8f7b97396
http://www.scopus.com/inward/record.url?eid=2-s2.0-84926614105&partnerID=MN8TOARS

95. Salmonellosis: an unusual manifestation of carcinoma metastatic to the liver

Autor: Mijnhout, S., Simmers, T.A., Van Meyel, J.J.M.

Publikováno v: The Netherlands Journal of Medicine; May 1997, Vol. 50 Issue: 5 pA35-A35, 1p