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Results: 1-8 |
Results: 8
A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation
Authors: Hulkova, H Cervenkova, M Ledvinova, J Tochackova, M Hrebicek, M Poupetova, H Befekadu, A Berna, L Paton, BC Harzer, K Boor, A Smid, F Elleder, M
Citation: H. Hulkova et al., A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation, HUM MOL GEN, 10(9), 2001, pp. 927-940
Pulmonary storage with emphysema as a sign of Niemann-Pick type C2 disease(second complementation group). Report of a case
Authors: Elleder, M Houstkova, H Zeman, J Ledvinova, J Poupetova, H
Citation: M. Elleder et al., Pulmonary storage with emphysema as a sign of Niemann-Pick type C2 disease(second complementation group). Report of a case, VIRCHOWS AR, 439(2), 2001, pp. 206-211
Cardiac manifestations in Fabry disease
Authors: Linhart, A Lubanda, JC Palecek, T Bultas, J Karetova, D Ledvinova, J Elleder, M Aschermann, M
Citation: A. Linhart et al., Cardiac manifestations in Fabry disease, J INH MET D, 24, 2001, pp. 75-83
Testis - a novel storage site in human cholesteryl ester storage disease -Autopsy report of an adult case with a long-standing subclinical course complicated by accelerated atherosclerosis and liver carcinoma
Authors: Elleder, M Chlumska, A Ledvinova, J Poupetova, H
Citation: M. Elleder et al., Testis - a novel storage site in human cholesteryl ester storage disease -Autopsy report of an adult case with a long-standing subclinical course complicated by accelerated atherosclerosis and liver carcinoma, VIRCHOWS AR, 436(1), 2000, pp. 82-87
Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer
Authors: Elleder, M Chlumska, A Hyanek, J Poupetova, H Ledvinova, J Maas, S Lohse, P
Citation: M. Elleder et al., Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer, J HEPATOL, 32(3), 2000, pp. 528-534
New insights in cardiac structural changes in patients with Fabry's disease
Authors: Linhart, A Palecek, T Bultas, J Ferguson, JJ Hrudova, J Karetova, D Zeman, J Ledvinova, J Poupetova, H Elleder, M Aschermann, M
Citation: A. Linhart et al., New insights in cardiac structural changes in patients with Fabry's disease, AM HEART J, 139(6), 2000, pp. 1101-1108
Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency
Authors: Wang, L Ou, X Sebesta, I Vondrak, K Krijt, J Elleder, M Poupetova, H Ledvinova, J Zeman, J Simmonds, HA Tischfield, JA Sahota, A
Citation: L. Wang et al., Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency, MOL GEN MET, 68(1), 1999, pp. 78-85
Determination of urinary sulfatides and other lipids by combination of reversed-phase and thin-layer chromatographies
Authors: Berna, L Asfaw, B Conzelmann, E Cerny, B Ledvinova, J
Citation: L. Berna et al., Determination of urinary sulfatides and other lipids by combination of reversed-phase and thin-layer chromatographies, ANALYT BIOC, 269(2), 1999, pp. 304-311
Risultati: 1-8 |