Kmoch S - Search Results

1

Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficiencies.

Baresova V, Skopova V, Souckova O, Krijt M, Kmoch S, Zikanova M. Baresova V, et al. Among authors: kmoch s. PLoS One. 2018 Jul 30;13(7):e0201432. doi: 10.1371/journal.pone.0201432. eCollection 2018. PLoS One. 2018. PMID: 30059557 Free PMC article.

2

Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients.

Kmoch S, Hartmannová H, Stibůrková B, Krijt J, Zikánová M, Sebesta I. Kmoch S, et al. Hum Mol Genet. 2000 Jun 12;9(10):1501-13. doi: 10.1093/hmg/9.10.1501. Hum Mol Genet. 2000. PMID: 10888601

3

Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes.

Stibůrková B, Majewski J, Hodanová K, Ondrová L, Jerábková M, Zikánová M, Vylet'al P, Sebesta I, Marinaki A, Simmonds A, Matthijs G, Fryns JP, Torres R, Puig JG, Ott J, Kmoch S. Stibůrková B, et al. Among authors: kmoch s. Eur J Hum Genet. 2003 Feb;11(2):145-54. doi: 10.1038/sj.ejhg.5200937. Eur J Hum Genet. 2003. PMID: 12634862

4

Preparation of 5-amino-4-imidazole-N-succinocarboxamide ribotide, 5-amino-4-imidazole-N-succinocarboxamide riboside and succinyladenosine, compounds usable in diagnosis and research of adenylosuccinate lyase deficiency.

Zikánová M, Krijt J, Hartmannová H, Kmoch S. Zikánová M, et al. Among authors: kmoch s. J Inherit Metab Dis. 2005;28(4):493-9. doi: 10.1007/s10545-005-0493-z. J Inherit Metab Dis. 2005. PMID: 15902552

5

Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome.

Vylet'al P, Kublová M, Kalbácová M, Hodanová K, Baresová V, Stibůrková B, Sikora J, Hůlková H, Zivný J, Majewski J, Simmonds A, Fryns JP, Venkat-Raman G, Elleder M, Kmoch S. Vylet'al P, et al. Among authors: kmoch s. Kidney Int. 2006 Sep;70(6):1155-69. doi: 10.1038/sj.ki.5001728. Epub 2006 Aug 2. Kidney Int. 2006. PMID: 16883323 Free article.

6

Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.

Jurecka A, Zikanova M, Tylki-Szymanska A, Krijt J, Bogdanska A, Gradowska W, Mullerova K, Sykut-Cegielska J, Kmoch S, Pronicka E. Jurecka A, et al. Among authors: kmoch s. Mol Genet Metab. 2008 Aug;94(4):435-442. doi: 10.1016/j.ymgme.2008.04.013. Epub 2008 Jun 3. Mol Genet Metab. 2008. PMID: 18524658

7

D-ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect.

Jurecka A, Tylki-Szymanska A, Zikanova M, Krijt J, Kmoch S. Jurecka A, et al. Among authors: kmoch s. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S329-32. doi: 10.1007/s10545-008-0904-z. Epub 2008 Jul 12. J Inherit Metab Dis. 2008. PMID: 18649008

8

Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.

Zivná M, Hůlková H, Matignon M, Hodanová K, Vylet'al P, Kalbácová M, Baresová V, Sikora J, Blazková H, Zivný J, Ivánek R, Stránecký V, Sovová J, Claes K, Lerut E, Fryns JP, Hart PS, Hart TC, Adams JN, Pawtowski A, Clemessy M, Gasc JM, Gübler MC, Antignac C, Elleder M, Kapp K, Grimbert P, Bleyer AJ, Kmoch S. Zivná M, et al. Among authors: kmoch s. Am J Hum Genet. 2009 Aug;85(2):204-13. doi: 10.1016/j.ajhg.2009.07.010. Epub 2009 Aug 6. Am J Hum Genet. 2009. PMID: 19664745 Free PMC article.

9

Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency.

Zikanova M, Skopova V, Hnizda A, Krijt J, Kmoch S. Zikanova M, et al. Among authors: kmoch s. Hum Mutat. 2010 Apr;31(4):445-55. doi: 10.1002/humu.21212. Hum Mutat. 2010. PMID: 20127976

10

Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP.

Zídková L, Krijt J, Sládková J, Hlobilková A, Magner M, Zikánová M, Kmoch S, Friedecký D, Zeman J, Elleder M, Adam T. Zídková L, et al. Among authors: kmoch s. Mol Genet Metab. 2010 Oct-Nov;101(2-3):286-8. doi: 10.1016/j.ymgme.2010.06.014. Epub 2010 Jun 25. Mol Genet Metab. 2010. PMID: 20674424

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