Zeman J - Search Results

1

[Metabolic study in a child with Leigh's syndrome and deficient activity in complex I of the respiratory chain].

Zeman J, Klement P, Houst'ková H, Hrebícek M, Hansíková H, Richterová I, Velenská Z, Houstĕk J. Zeman J, et al. Cesk Pediatr. 1993 Oct;48(10):586-9. Cesk Pediatr. 1993. PMID: 8269530 Czech.

2

[A new missense mutation of 574C>T in the SURF1 gene--biochemical and molecular genetic study in seven children with Leigh syndrome].

Capková M, Hansíková H, Godinot C, Houst'ková H, Houstĕk J, Zeman J. Capková M, et al. Among authors: zeman j. Cas Lek Cesk. 2002 Oct 11;141(20):636-41. Cas Lek Cesk. 2002. PMID: 12515039 Czech.

3

[Various manifestations of the A8344G mtDNA heteroplasmic mutation in 4 families with the MERRF syndrome].

Stratilová L, Zeman J, Houst'ková H, Hansíková H, Konrádová V, Hůlková H, Elleder M, Růzicka E, Tyl D, Hrubá E, Houstĕk J. Stratilová L, et al. Among authors: zeman j. Cas Lek Cesk. 1999 Jun 28;138(13):401-5. Cas Lek Cesk. 1999. PMID: 10566210 Czech.

4

[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: zeman j. Ceska Gynekol. 2000 Jan;65(1):37-42. Ceska Gynekol. 2000. PMID: 10750296 Czech.

5

[Variation in manifestations of heteroplasmic mtDNA mutation 8993 T>G in two families].

Tesarová M, Hansíková H, Hlavatá A, Klement P, Houst'ková H, Houstĕk J, Zeman J. Tesarová M, et al. Among authors: zeman j. Cas Lek Cesk. 2002 Aug 30;141(17):551-4. Cas Lek Cesk. 2002. PMID: 12404959 Czech.

6

Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome.

Pecina P, Capková M, Chowdhury SK, Drahota Z, Dubot A, Vojtísková A, Hansíková H, Houst'ková H, Zeman J, Godinot C, Houstek J. Pecina P, et al. Among authors: zeman j. Biochim Biophys Acta. 2003 Sep 1;1639(1):53-63. doi: 10.1016/s0925-4439(03)00127-3. Biochim Biophys Acta. 2003. PMID: 12943968 Free article.

7

[Malignant hyperphenylalaninemia with dihydropteridine reductase deficiency].

Hyánek J, Zeman J, Niederwieser A, Leeming R, Grimm U, Sahota A, Komárek V, Houst'ková H, Böhm J, Verner P, et al. Hyánek J, et al. Among authors: zeman j. Cesk Pediatr. 1986 Nov;41(11):664-8. Cesk Pediatr. 1986. PMID: 3791474 Czech. No abstract available.

8

Hajdu-Cheney syndrome in a 3 1/2 year old girl.

Zeman J, Houstkova H, Kozlowski K. Zeman J, et al. Australas Radiol. 1994 Aug;38(3):228-30. doi: 10.1111/j.1440-1673.1994.tb00183.x. Australas Radiol. 1994. PMID: 7945122

9

[Lactate acidosis in childhood].

Zeman J, Stratilová L, Houst'ková H, Dudková Z, Hansíková H, Konrádová V, Hrubá E, Hoza J, Zeman L. Zeman J, et al. Among authors: zeman l. Cas Lek Cesk. 1998 Sep 21;137(18):557-60. Cas Lek Cesk. 1998. PMID: 9818465 Czech.

10

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: zeman j. Mol Genet Metab. 2001 Aug;73(4):340-3. doi: 10.1006/mgme.2001.3206. Mol Genet Metab. 2001. PMID: 11509016

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