Kmoch S - Search Results

1

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.

Honzík T, Tesarová M, Mayr JA, Hansíková H, Jesina P, Bodamer O, Koch J, Magner M, Freisinger P, Huemer M, Kostková O, van Coster R, Kmoch S, Houstêk J, Sperl W, Zeman J. Honzík T, et al. Among authors: kmoch s. Arch Dis Child. 2010 Apr;95(4):296-301. doi: 10.1136/adc.2009.168096. Arch Dis Child. 2010. PMID: 20335238 Free article.

2

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.

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

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

5

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.

6

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

7

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

8

Accumulation of homoplasmic mtDNA point mutations in erythroblasts isolated from the bone marrow of patients with refractory anemia with ring sideroblasts (RARS).

Babusiaková E, Vyoral D, Neuwirtová R, Sisková M, Zeman J, Kmoch S. Babusiaková E, et al. Among authors: kmoch s. Mitochondrion. 2004 Aug;4(4):321-9. doi: 10.1016/j.mito.2004.06.002. Mitochondrion. 2004. PMID: 16120395

9

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

10

Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency.

Cízková A, Stránecký V, Ivánek R, Hartmannová H, Nosková L, Piherová L, Tesarová M, Hansíková H, Honzík T, Zeman J, Divina P, Potocká A, Paul J, Sperl W, Mayr JA, Seneca S, Houstĕk J, Kmoch S. Cízková A, et al. Among authors: kmoch s. BMC Genomics. 2008 Jan 25;9:38. doi: 10.1186/1471-2164-9-38. BMC Genomics. 2008. PMID: 18221507 Free PMC article.

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