Zeman J - Search Results

1

Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study.

Pavlů-Pereira H, Asfaw B, Poupctová H, Ledvinová J, Sikora J, Vanier MT, Sandhoff K, Zeman J, Novotná Z, Chudoba D, Elleder M. Pavlů-Pereira H, et al. Among authors: zeman j. J Inherit Metab Dis. 2005;28(2):203-27. doi: 10.1007/s10545-005-5671-5. J Inherit Metab Dis. 2005. PMID: 15877209

2

Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics.

Majer F, Pelak O, Kalina T, Vlaskova H, Dvorakova L, Honzik T, Palecek T, Kuchynka P, Masek M, Zeman J, Elleder M, Sikora J. Majer F, et al. Among authors: zeman j. J Inherit Metab Dis. 2014 Jan;37(1):117-24. doi: 10.1007/s10545-013-9617-z. Epub 2013 May 29. J Inherit Metab Dis. 2014. PMID: 23716275

3

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: zeman j. Virchows Arch. 2001 Aug;439(2):206-11. doi: 10.1007/s004280100407. Virchows Arch. 2001. PMID: 11561763

4

[Lysosomal sphingomyelinase deficiency: spectrum of phenotypes in Czech and Slovak patients].

Elleder M, Poupĕtová H, Ledvinová J, Zeman J, Rosipal S, Kraus J. Elleder M, et al. Among authors: zeman j. Cas Lek Cesk. 2001 Dec 6;140(24):755-60. Cas Lek Cesk. 2001. PMID: 14655278 Czech.

5

Neuronal ceroid lipofuscinosis in the Czech Republic: analysis of 57 cases. Report of the 'Prague NCL group'.

Elleder M, Franc J, Kraus J, Nevsímalová S, Sixtová K, Zeman J. Elleder M, et al. Among authors: zeman j. Eur J Paediatr Neurol. 1997;1(4):109-14. doi: 10.1016/s1090-3798(97)80041-4. Eur J Paediatr Neurol. 1997. PMID: 10728204

6

Ultrastructural changes of mitochondria in the cultivated skin fibroblasts of patients with point mutations in mitochondrial DNA.

Brantová O, Tesarová M, Hansíková H, Elleder M, Zeman J, Sládková J. Brantová O, et al. Among authors: zeman j. Ultrastruct Pathol. 2006 Jul-Aug;30(4):239-45. doi: 10.1080/01913120600820112. Ultrastruct Pathol. 2006. PMID: 16971348

7

cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.

Zavadáková P, Fowler B, Suormala T, Novotna Z, Mueller P, Hennermann JB, Zeman J, Vilaseca MA, Vilarinho L, Gutsche S, Wilichowski E, Horneff G, Kozich V. Zavadáková P, et al. Among authors: zeman j. Hum Mutat. 2005 Mar;25(3):239-47. doi: 10.1002/humu.20131. Hum Mutat. 2005. PMID: 15714522

8

A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency.

Hrebícek M, Zeman J, Musilová J, Hodanová K, Renkema GH, Vepreková L, Ledvinová J, Hrebícek D, Sokolová J, Aerts JM, Elleder M. Hrebícek M, et al. Among authors: zeman j. Virchows Arch. 1996 Nov;429(4-5):305-9. doi: 10.1007/BF00198347. Virchows Arch. 1996. PMID: 8972767

9

[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: zeman j. Cas Lek Cesk. 1999 Nov 29;138(23):719-24. Cas Lek Cesk. 1999. PMID: 10746035 Czech.

10

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: zeman j. Am Heart J. 2000 Jun;139(6):1101-8. doi: 10.1067/mhj.2000.105105. Am Heart J. 2000. PMID: 10827394

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