Ledvinová J - Search Results

1

Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients.

Berná L, Gieselmann V, Poupetová H, Hrebícek M, Elleder M, Ledvinová J. Berná L, et al. Among authors: ledvinova j. Am J Med Genet A. 2004 Sep 1;129A(3):277-81. doi: 10.1002/ajmg.a.30118. Am J Med Genet A. 2004. PMID: 15326627

2

Subclinical course of cholesterol ester storage disease (CESD) diagnosed in adulthood. Report on two cases with remarks on the nature of the liver storage process.

Elleder M, Ledvinová J, Cieslar P, Kuhn R. Elleder M, et al. Among authors: ledvinova j. Virchows Arch A Pathol Anat Histopathol. 1990;416(4):357-65. doi: 10.1007/BF01605297. Virchows Arch A Pathol Anat Histopathol. 1990. PMID: 2106753

3

An atypical ultrastructural pattern in Fabry's disease: a study on its nature and incidence in 7 cases.

Elleder M, Ledvinová J, Vosmík F, Zeman J, Stejskal D, Lageron A. Elleder M, et al. Among authors: ledvinova j. Ultrastruct Pathol. 1990 Nov-Dec;14(6):467-74. doi: 10.3109/01913129009076133. Ultrastruct Pathol. 1990. PMID: 2126406

4

Filipin test for diagnosis of Niemann-Pick disease type C.

Ledvinová J, Elleder M. Ledvinová J, et al. Sb Lek. 1993;94(2):137-43. Sb Lek. 1993. PMID: 7992006

5

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. J Inherit Metab Dis. 1994;17(1):118-9. doi: 10.1007/BF00735411. J Inherit Metab Dis. 1994. PMID: 8051919 No abstract available.

6

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: ledvinova j. Virchows Arch. 1996 Nov;429(4-5):305-9. doi: 10.1007/BF00198347. Virchows Arch. 1996. PMID: 8972767

7

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. Biochim Biophys Acta. 1997 Apr 1;1345(2):180-7. doi: 10.1016/s0005-2760(96)00175-0. Biochim Biophys Acta. 1997. PMID: 9106497

8

[Enzyme therapy in children with severe forms of Gaucher's disease].

Zeman J, Hrebícek M, Vepreková L, Kytnarová J, Houstková H, Malinová V, Hodanová K, Poupĕtová H, Ledvinová J, Hoza J. Zeman J, et al. Among authors: ledvinova j. Cas Lek Cesk. 1997 Feb 5;136(3):95-7. Cas Lek Cesk. 1997. PMID: 9221177 Czech.

9

[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: ledvinova j. Cas Lek Cesk. 1997 Nov 19;136(22):702-6. Cas Lek Cesk. 1997. PMID: 9476383 Czech.

10

Determination of urinary sulfatides and other lipids by combination of reversed-phase and thin-layer chromatographies.

Berná L, Asfaw B, Conzelmann E, Cerný B, Ledvinová J. Berná L, et al. Among authors: ledvinova j. Anal Biochem. 1999 May 1;269(2):304-11. doi: 10.1006/abio.1999.4002. Anal Biochem. 1999. PMID: 10222002

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

73 results

Search Page

Filters