Kmoch S - Search Results

1

Jurecka A, Zikanova M, Kmoch S, Tylki-Szymańska A. Jurecka A, et al. Among authors: kmoch s. J Inherit Metab Dis. 2015 Mar;38(2):231-42. doi: 10.1007/s10545-014-9755-y. Epub 2014 Aug 12. J Inherit Metab Dis. 2015. PMID: 25112391 Free PMC article. Review.

2

Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family.

de Haan A, van Eerde AM, Eijgelsheim M, Rump P, van der Zwaag B, Hennekam E, Živná M, Kmoch S, Bleyer AJ, Kidd K, Vogt L, Knoers NVAM, de Borst MH. de Haan A, et al. Among authors: kmoch s. Kidney Int. 2023 May;103(5):986-989. doi: 10.1016/j.kint.2023.02.021. Epub 2023 Mar 22. Kidney Int. 2023. PMID: 37085259 Free article. No abstract available.

3

Adenylosuccinase deficiency: clinical and biochemical findings in 5 Czech patients.

Sebesta I, Krijt J, Kmoch S, Hartmannová H, Wojda M, Zeman J. Sebesta I, et al. Among authors: kmoch s. J Inherit Metab Dis. 1997 Jul;20(3):343-4. doi: 10.1023/a:1005361408031. J Inherit Metab Dis. 1997. PMID: 9266351 Clinical Trial. No abstract available.

4

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

5

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

6

Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families.

Mouchegh K, Zikánová M, Hoffmann GF, Kretzschmar B, Kühn T, Mildenberger E, Stoltenburg-Didinger G, Krijt J, Dvoráková L, Honzík T, Zeman J, Kmoch S, Rossi R. Mouchegh K, et al. Among authors: kmoch s. J Pediatr. 2007 Jan;150(1):57-61.e2. doi: 10.1016/j.jpeds.2006.09.027. J Pediatr. 2007. PMID: 17188615

7

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

8

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

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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