Dobrovolny R - Search Results

1

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

Hwu WL, Chien YH, Lee NC, Chiang SC, Dobrovolny R, Huang AC, Yeh HY, Chao MC, Lin SJ, Kitagawa T, Desnick RJ, Hsu LW. Hwu WL, et al. Among authors: dobrovolny r. Hum Mutat. 2009 Oct;30(10):1397-405. doi: 10.1002/humu.21074. Hum Mutat. 2009. PMID: 19621417 Free PMC article.

2

Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel α-galactosidase A (GLA) deletions causing Fabry disease.

Dobrovolny R, Nazarenko I, Kim J, Doheny D, Desnick RJ. Dobrovolny R, et al. Hum Mutat. 2011 Jun;32(6):688-95. doi: 10.1002/humu.21474. Epub 2011 Mar 29. Hum Mutat. 2011. PMID: 21305660

3

Fabry disease: renal sphingolipid distribution in the α-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging.

Kuchar L, Faltyskova H, Krasny L, Dobrovolny R, Hulkova H, Ledvinova J, Volny M, Strohalm M, Lemr K, Kryspinova L, Asfaw B, Rybová J, Desnick RJ, Havlicek V. Kuchar L, et al. Among authors: dobrovolny r. Anal Bioanal Chem. 2015 Mar;407(8):2283-91. doi: 10.1007/s00216-014-8402-7. Epub 2014 Dec 27. Anal Bioanal Chem. 2015. PMID: 25542581

4

Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases.

Asfaw B, Ledvinová J, Dobrovolńy R, Bakker HD, Desnick RJ, van Diggelen OP, de Jong JG, Kanzaki T, Chabas A, Maire I, Conzelmann E, Schindler D. Asfaw B, et al. Among authors: dobrovolny r. J Lipid Res. 2002 Jul;43(7):1096-104. doi: 10.1194/jlr.m100423-jlr200. J Lipid Res. 2002. PMID: 12091494 Free article.

5

Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke.

Wozniak MA, Kittner SJ, Tuhrim S, Cole JW, Stern B, Dobbins M, Grace ME, Nazarenko I, Dobrovolny R, McDade E, Desnick RJ. Wozniak MA, et al. Among authors: dobrovolny r. Stroke. 2010 Jan;41(1):78-81. doi: 10.1161/STROKEAHA.109.558320. Epub 2009 Dec 10. Stroke. 2010. PMID: 20007919 Free PMC article.

6

Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" α-galactosidase a large deletion.

Feldt-Rasmussen U, Dobrovolny R, Nazarenko I, Ballegaard M, Hasholt L, Rasmussen AK, Christensen EI, Sorensen SS, Wibrand F, Desnick RJ. Feldt-Rasmussen U, et al. Among authors: dobrovolny r. Mol Genet Metab. 2011 Nov;104(3):314-8. doi: 10.1016/j.ymgme.2011.05.008. Epub 2011 May 14. Mol Genet Metab. 2011. PMID: 21641253

7

A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population.

Merta M, Reiterova J, Ledvinova J, Poupetová H, Dobrovolny R, Rysavá R, Maixnerová D, Bultas J, Motán J, Slivkova J, Sobotova D, Smrzova J, Tesar V. Merta M, et al. Among authors: dobrovolny r. Nephrol Dial Transplant. 2007 Jan;22(1):179-86. doi: 10.1093/ndt/gfl528. Epub 2006 Oct 13. Nephrol Dial Transplant. 2007. PMID: 17040996

8

Recurrence of Fabry disease as a result of paternal germline mosaicism for alpha-galactosidase a gene mutation.

Dobrovolný R, Dvoráková L, Ledvinová J, Magage S, Bultas J, Lubanda JC, Poupetová H, Elleder M, Karetová D, Hrebícek M. Dobrovolný R, et al. Am J Med Genet A. 2005 Apr 1;134A(1):84-7. doi: 10.1002/ajmg.a.30533. Am J Med Genet A. 2005. PMID: 15712198

9

Natural history of the respiratory involvement in Anderson-Fabry disease.

Magage S, Lubanda JC, Susa Z, Bultas J, Karetová D, Dobrovolný R, Hrebícek M, Germain DP, Linhart A. Magage S, et al. Among authors: dobrovolny r. J Inherit Metab Dis. 2007 Oct;30(5):790-9. doi: 10.1007/s10545-007-0616-9. Epub 2007 Jul 9. J Inherit Metab Dis. 2007. PMID: 17619837

10

Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population.

Dobrovolny R, Dvorakova L, Ledvinova J, Magage S, Bultas J, Lubanda JC, Elleder M, Karetova D, Pavlikova M, Hrebicek M. Dobrovolny R, et al. J Mol Med (Berl). 2005 Aug;83(8):647-54. doi: 10.1007/s00109-005-0656-2. Epub 2005 Apr 2. J Mol Med (Berl). 2005. PMID: 15806320

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

20 results

Search Page

Filters