Hansikova H - 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: hansikova h. 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

Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches.

Himmelreich N, Kikul F, Zdrazilova L, Honzik T, Hecker A, Poschet G, Lüchtenborg C, Brügger B, Strahl S, Bürger F, Okun JG, Hansikova H, Thiel C. Himmelreich N, et al. Among authors: hansikova h. Mol Genet Metab. 2023 Jul;139(3):107610. doi: 10.1016/j.ymgme.2023.107610. Epub 2023 May 16. Mol Genet Metab. 2023. PMID: 37245379

3

Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-CDG.

Zdrazilova L, Rakosnikova T, Himmelreich N, Ondruskova N, Pasak M, Vanisova M, Volfova N, Honzik T, Thiel C, Hansikova H. Zdrazilova L, et al. Among authors: hansikova h. Mol Genet Metab. 2023 Aug;139(4):107629. doi: 10.1016/j.ymgme.2023.107629. Epub 2023 Jun 19. Mol Genet Metab. 2023. PMID: 37392701 Free article.

4

Mitochondrial Dysfunction in a High Intraocular Pressure-Induced Retinal Ischemia Minipig Model.

Pasák M, Vanišová M, Tichotová L, Křížová J, Ardan T, Nemesh Y, Čížková J, Kolesnikova A, Nyshchuk R, Josifovska N, Lytvynchuk L, Kolko M, Motlík J, Petrovski G, Hansíková H. Pasák M, et al. Among authors: hansikova h. Biomolecules. 2022 Oct 21;12(10):1532. doi: 10.3390/biom12101532. Biomolecules. 2022. PMID: 36291741 Free PMC article.

5

Different restriction fragment pattern of mtDNA indicative of generalized 8993 point mutations in a boy with lactic acidosis.

Klement P, Zeman J, Hansikova H, Houstkova H, Baudysova M, Houstek J. Klement P, et al. Among authors: hansikova h. J Inherit Metab Dis. 1994;17(2):249-50. doi: 10.1007/BF00711630. J Inherit Metab Dis. 1994. PMID: 7967485 No abstract available.

6

Deficiency of pyruvate dehydrogenase complex in tissues of an eight month old infant.

Hansikova H, Zeman J, Klement P, Technikova-Dobrova Z, Houstkova H, Houstek J, Papa S. Hansikova H, et al. Biochem Mol Biol Int. 1993 Dec;31(6):1157-66. Biochem Mol Biol Int. 1993. PMID: 8193600

7

[Prenatal diagnosis in families with cytochrome C oxidase disorder].

Houst'ková H, Houstĕk J, Klement P, Stratilová L, Antonická H, Hansíková H, Hermanská J, Hrebícek M, Macek M, Zeman J. Houst'ková H, et al. Among authors: hansikova h. Ceska Gynekol. 2000 Jan;65(1):37-42. Ceska Gynekol. 2000. PMID: 10750296 Czech.

8

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: hansikova h. 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.

9

A novel mutation in SURF1 causes skipping of exon 8 in a patient with cytochrome c oxidase-deficient leigh syndrome and hypertrichosis.

Williams SL, Taanman JW, Hansíková H, Houst'ková H, Chowdhury S, Zeman J, Houstek J. Williams SL, et al. Among authors: hansikova h. Mol Genet Metab. 2001 Aug;73(4):340-3. doi: 10.1006/mgme.2001.3206. Mol Genet Metab. 2001. PMID: 11509016

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

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