Poupetová H - Search Results

1

Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency.

Elleder M, Dvoráková L, Stolnaja L, Vlásková H, Hůlková H, Druga R, Poupetová H, Kostálová E, Mikulástík J. Elleder M, et al. Among authors: poupetova h. Acta Neuropathol. 2008 Jul;116(1):119-24. doi: 10.1007/s00401-008-0349-3. Epub 2008 Feb 19. Acta Neuropathol. 2008. PMID: 18283468 Free PMC article.

2

Sialidosis type I: first report in the Czech population of two siblings with cherry-red spot myoclonus syndrome but without sialyloligosacchariduria.

Ledvinová J, Poupĕtová H, Elleder M, Tichý J, Pĕnicková V, Harzer K. Ledvinová J, et al. Among authors: poupetova h. J Inherit Metab Dis. 1994;17(1):118-9. doi: 10.1007/BF00735411. J Inherit Metab Dis. 1994. PMID: 8051919 No abstract available.

3

Blood group B glycosphingolipids in alpha-galactosidase deficiency (Fabry disease): influence of secretor status.

Ledvinová J, Poupetová H, Hanácková A, Písacka M, Elleder M. Ledvinová J, et al. Among authors: poupetova h. Biochim Biophys Acta. 1997 Apr 1;1345(2):180-7. doi: 10.1016/s0005-2760(96)00175-0. Biochim Biophys Acta. 1997. PMID: 9106497

4

[Fetal pathology in Fabry's disease and mucopolysaccharidosis type I].

Elleder M, Poupĕtová H, Kozich V. Elleder M, et al. Among authors: poupetova h. Cesk Patol. 1998 Jan;34(1):7-12. Cesk Patol. 1998. PMID: 9560877 Czech.

5

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.

Elleder M, Chlumska A, Ledvinová J, Poupetová H. Elleder M, et al. Among authors: poupetova h. Virchows Arch. 2000 Jan;436(1):82-7. doi: 10.1007/pl00008203. Virchows Arch. 2000. PMID: 10664166

6

Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer.

Elleder M, Chlumská A, Hyánek J, Poupĕtová H, Ledvinová J, Maas S, Lohse P. Elleder M, et al. Among authors: poupetova h. J Hepatol. 2000 Mar;32(3):528-34. doi: 10.1016/s0168-8278(00)80407-9. J Hepatol. 2000. PMID: 10735626

7

[Postmortem diagnosis of Fabry disease in a female heterozygote leading to the detection of undiagnosed manifest disease in the family].

Hůlková H, Ledvinová J, Poupĕtová H, Bultas J, Zeman J, Elleder M. Hůlková H, et al. Among authors: poupetova h. Cas Lek Cesk. 1999 Nov 1;138(21):660-4. Cas Lek Cesk. 1999. PMID: 10746023 Czech.

8

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

9

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

10

Pulmonary storage with emphysema as a sign of Niemann-Pick type C2 disease (second complementation group). Report of a case.

Elleder M, Houstková H, Zeman J, Ledvinová J, Poupetová H. Elleder M, et al. Among authors: poupetova h. Virchows Arch. 2001 Aug;439(2):206-11. doi: 10.1007/s004280100407. Virchows Arch. 2001. PMID: 11561763

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