Wenchich L - Search Results

1

Fumaric aciduria: mild phenotype in a 8-year-old girl with novel mutations.

Maradin M, Fumić K, Hansikova H, Tesarova M, Wenchich L, Dorner S, Sarnavka V, Zeman J, Barić I. Maradin M, et al. Among authors: wenchich l. J Inherit Metab Dis. 2006 Oct;29(5):683. doi: 10.1007/s10545-006-0321-0. Epub 2006 Aug 5. J Inherit Metab Dis. 2006. PMID: 16972175

2

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: wenchich l. 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.

3

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: wenchich l. Med Sci Monit. 2001 Nov-Dec;7(6):1319-25. Med Sci Monit. 2001. PMID: 11687750

4

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.

Honzik T, Tesarova M, Magner M, Mayr J, Jesina P, Vesela K, Wenchich L, Szentivanyi K, Hansikova H, Sperl W, Zeman J. Honzik T, et al. Among authors: wenchich l. J Inherit Metab Dis. 2012 Sep;35(5):749-59. doi: 10.1007/s10545-011-9440-3. Epub 2012 Jan 10. J Inherit Metab Dis. 2012. PMID: 22231385

5

Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene.

Magner M, Vinšová K, Tesařová M, Hájková Z, Hansíková H, Wenchich L, Ješina P, Smolka V, Adam T, Vaněčková M, Zeman J, Honzík T. Magner M, et al. Among authors: wenchich l. Prague Med Rep. 2011;112(1):18-28. Prague Med Rep. 2011. PMID: 21470495

6

[Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)].

Honzík T, Tesarová M, Hansíková H, Krijt J, Benes P, Zámecník J, Wenchich L, Zeman J. Honzík T, et al. Among authors: wenchich l. Cas Lek Cesk. 2006;145(8):665-70. Cas Lek Cesk. 2006. PMID: 16995425 Czech.

7

Mitochondrial DNA depletion in Alpers syndrome.

Tesarova M, Mayr JA, Wenchich L, Hansikova H, Elleder M, Blahova K, Sperl W, Zeman J. Tesarova M, et al. Among authors: wenchich l. Neuropediatrics. 2004 Aug;35(4):217-23. doi: 10.1055/s-2004-821081. Neuropediatrics. 2004. PMID: 15328560

8

Mitochondrial cardiomyopathy--case report.

Steiner I, Zeman J, Spacek J, Hansíková H, Wenchich L. Steiner I, et al. Among authors: wenchich l. Cesk Patol. 2002 Jan;38(1):41-5. Cesk Patol. 2002. PMID: 11933462

9

Polarographic evaluation of mitochondrial enzymes activity in isolated mitochondria and in permeabilized human muscle cells with inherited mitochondrial defects.

Wenchich L, Drahota Z, Honzík T, Hansíková H, Tesarová M, Zeman J, Houstek J. Wenchich L, et al. Physiol Res. 2003;52(6):781-8. Physiol Res. 2003. PMID: 14640901 Free article.

10

[Disorders of mitochondrial energy metabolism in patients with the Kearns-Sayre syndrome].

Capková M, Tesarová M, Wenchich L, Cerná L, Hansíková H, Hůlková H, Hrubá E, Elleder M, Zeman J. Capková M, et al. Among authors: wenchich l. Cas Lek Cesk. 2002 Feb 1;141(2):51-4. Cas Lek Cesk. 2002. PMID: 11925663 Czech.

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