Kmoch S - Search Results

1

A novel deficiency of mitochondrial ATPase of nuclear origin.

Houstek J, Klement P, Floryk D, Antonická H, Hermanská J, Kalous M, Hansíková H, Hout'ková H, Chowdhury SK, Rosipal T, Kmoch S, Stratilová L, Zeman J. Houstek J, et al. Among authors: kmoch s. Hum Mol Genet. 1999 Oct;8(11):1967-74. doi: 10.1093/hmg/8.11.1967. Hum Mol Genet. 1999. PMID: 10484764

2

Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD.

Jorge S, Kidd K, Vylet'al P, Nogueira E, Martin L, Howard K, Barešová V, Hodaňová K, Hnízda A, Moldovan O, Silveira C, Coutinho AM, Lopes JA, Bleyer AJ, Kmoch S, Živná M. Jorge S, et al. Among authors: kmoch s. Kidney Int Rep. 2023 Jan 16;8(5):1112-1116. doi: 10.1016/j.ekir.2023.01.017. eCollection 2023 May. Kidney Int Rep. 2023. PMID: 37180515 Free PMC article. No abstract available.

3

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.

4

Riboflavin-responsive epilepsy in a patient with SER209 variant form of short-chain acyl-CoA dehydrogenase.

Kmoch S, Zeman J, Hrebícek M, Ryba L, Kristensen MJ, Gregersen N. Kmoch S, et al. J Inherit Metab Dis. 1995;18(2):227-9. doi: 10.1007/BF00711774. J Inherit Metab Dis. 1995. PMID: 7564254 No abstract available.

5

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.

6

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

7

Abnormalities in succinylpurines in fumarase deficiency: possible role in pathogenesis of CNS impairment.

Zeman J, Krijt J, Stratilová L, Hansíková H, Wenchich L, Kmoch S, Chrastina P, Houstek J. Zeman J, et al. Among authors: kmoch s. J Inherit Metab Dis. 2000 Jun;23(4):371-4. doi: 10.1023/a:1005639516342. J Inherit Metab Dis. 2000. PMID: 10896297 No abstract available.

8

Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography.

Kmoch S, Brynda J, Asfaw B, Bezouska K, Novák P, Rezácová P, Ondrová L, Filipec M, Sedlácek J, Elleder M. Kmoch S, et al. Hum Mol Genet. 2000 Jul 22;9(12):1779-86. doi: 10.1093/hmg/9.12.1779. Hum Mol Genet. 2000. PMID: 10915766

9

Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.

Dvoráková L, Storkánová G, Unterrainer G, Hujová J, Kmoch S, Zeman J, Hrebícek M, Berger J. Dvoráková L, et al. Among authors: kmoch s. Hum Mutat. 2001;18(1):52-60. doi: 10.1002/humu.1149. Hum Mutat. 2001. PMID: 11438993

10

Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency.

Cerna L, Wenchich L, Hansiková H, Kmoch S, Peskova K, Chrastina P, Brynda J, Zeman J. Cerna L, et al. Among authors: kmoch s. Med Sci Monit. 2001 Nov-Dec;7(6):1319-25. Med Sci Monit. 2001. PMID: 11687750

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