Poupetová H - Search Results

1

Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients.

Keslová-Veselíková J, Hůlková H, Dobrovolný R, Asfaw B, Poupetová H, Berná L, Sikora J, Golán L, Ledvinová J, Elleder M. Keslová-Veselíková J, et al. Among authors: poupetova h. Virchows Arch. 2008 Jun;452(6):651-65. doi: 10.1007/s00428-008-0586-9. Epub 2008 Mar 20. Virchows Arch. 2008. PMID: 18351385 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

[Mucolipidosis II (I cell disease). First case report in the Czech Republic and prenatal diagnosis in a family].

Elleder M, Poupĕtová H, Zeman J, Hrebícek M, Ledvinová J, Baxová A, Podhola M. Elleder M, et al. Among authors: poupetova h. Cas Lek Cesk. 1997 Nov 19;136(22):702-6. Cas Lek Cesk. 1997. PMID: 9476383 Czech.

5

[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.

6

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

7

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

8

[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.

9

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

10

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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