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[Lysosomal acid lipase deficiency. Overview of Czech patients].
Elleder M, Poupĕtová H, Ledvinová J, Hyánek J, Zeman J, Sýkora J, Stozický F, Chlumská A, Lohse P. Elleder M, et al. Among authors: poupetova h. Cas Lek Cesk. 1999 Nov 29;138(23):719-24. Cas Lek Cesk. 1999. PMID: 10746035 Czech.
New insights in cardiac structural changes in patients with Fabry's disease.
Linhart A, Palecek T, Bultas J, Ferguson JJ, Hrudová J, Karetová D, Zeman J, Ledvinová J, Poupetová H, Elleder M, Aschermann M. Linhart A, et al. Among authors: poupetova h. Am Heart J. 2000 Jun;139(6):1101-8. doi: 10.1067/mhj.2000.105105. Am Heart J. 2000. PMID: 10827394
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.
Hulková H, Cervenková M, Ledvinová J, Tochácková M, Hrebícek M, Poupetová H, Befekadu A, Berná L, Paton BC, Harzer K, Böör A, Smíd F, Elleder M. Hulková H, et al. Among authors: poupetova h. Hum Mol Genet. 2001 Apr 15;10(9):927-40. doi: 10.1093/hmg/10.9.927. Hum Mol Genet. 2001. PMID: 11309366
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