Kuchar L - Search Results

1

Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases.

Kuchar L, Sikora J, Gulinello ME, Poupetova H, Lugowska A, Malinova V, Jahnova H, Asfaw B, Ledvinova J. Kuchar L, et al. Anal Biochem. 2017 May 15;525:73-77. doi: 10.1016/j.ab.2017.02.019. Epub 2017 Mar 1. Anal Biochem. 2017. PMID: 28259515

2

Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations.

Kuchar L, Ledvinová J, Hrebícek M, Mysková H, Dvoráková L, Berná L, Chrastina P, Asfaw B, Elleder M, Petermöller M, Mayrhofer H, Staudt M, Krägeloh-Mann I, Paton BC, Harzer K. Kuchar L, et al. Am J Med Genet A. 2009 Feb 15;149A(4):613-21. doi: 10.1002/ajmg.a.32712. Am J Med Genet A. 2009. PMID: 19267410 Free PMC article.

3

Semisynthesis of C17:0 isoforms of sulphatide and glucosylceramide using immobilised sphingolipid ceramide N-deacylase for application in analytical mass spectrometry.

Kuchar L, Rotková J, Asfaw B, Lenfeld J, Horák D, Korecká L, Bílková Z, Ledvinová J. Kuchar L, et al. Rapid Commun Mass Spectrom. 2010 Aug 30;24(16):2393-9. doi: 10.1002/rcm.4659. Rapid Commun Mass Spectrom. 2010. PMID: 20635342

4

Glycosphingolipid profile of the apical pole of human placental capillaries: the relevancy of the observed data to Fabry disease.

Hůlková H, Ledvinová J, Kuchař L, Šmíd F, Honzíková J, Elleder M. Hůlková H, et al. Among authors: kuchar l. Glycobiology. 2012 May;22(5):725-32. doi: 10.1093/glycob/cws050. Epub 2012 Feb 7. Glycobiology. 2012. PMID: 22319058

5

Rapid isolation of lysosomal membranes from cultured cells.

Mušálková D, Lukáš J, Majer F, Hřebíček O, Svobodová E, Kuchař L, Honzíková J, Hůlková H, Ledvinová J, Hřebíček M. Mušálková D, et al. Among authors: kuchar l. Folia Biol (Praha). 2013;59(1):41-6. Folia Biol (Praha). 2013. PMID: 23537527 Free article.

6

Direct tandem mass spectrometric profiling of sulfatides in dry urinary samples for screening of metachromatic leukodystrophy.

Kuchař L, Asfaw B, Poupětová H, Honzíková J, Tureček F, Ledvinová J. Kuchař L, et al. Clin Chim Acta. 2013 Oct 21;425:153-9. doi: 10.1016/j.cca.2013.06.027. Epub 2013 Jul 6. Clin Chim Acta. 2013. PMID: 23838369 Free PMC article.

7

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. 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

8

Tandem Mass Spectrometry of Sphingolipids: Applications for Diagnosis of Sphingolipidoses.

Kuchař L, Asfaw B, Rybová J, Ledvinová J. Kuchař L, et al. Adv Clin Chem. 2016;77:177-219. doi: 10.1016/bs.acc.2016.06.004. Epub 2016 Jul 7. Adv Clin Chem. 2016. PMID: 27717417 Review.

9

N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV.

Boudewyn LC, Sikora J, Kuchar L, Ledvinova J, Grishchuk Y, Wang SL, Dobrenis K, Walkley SU. Boudewyn LC, et al. Among authors: kuchar l. Neurobiol Dis. 2017 Sep;105:257-270. doi: 10.1016/j.nbd.2017.06.003. Epub 2017 Jun 10. Neurobiol Dis. 2017. PMID: 28610891 Free PMC article.

10

Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II.

Rybová J, Ledvinová J, Sikora J, Kuchař L, Dobrovolný R. Rybová J, et al. Among authors: kuchar l. J Inherit Metab Dis. 2018 Mar;41(2):221-229. doi: 10.1007/s10545-017-0108-5. Epub 2017 Nov 22. J Inherit Metab Dis. 2018. PMID: 29168031

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