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
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
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
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
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