Hrabincová E - Search Results

1

Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type ia, including novel mutations K76N, V166A and 540del5.

Kozák L, Francová H, Hrabincová E, Stastná S, Pesková K, Elleder M. Kozák L, et al. Among authors: hrabincova e. Hum Mutat. 2000 Jul;16(1):89. doi: 10.1002/1098-1004(200007)16:1<89::AID-HUMU17>3.0.CO;2-A. Hum Mutat. 2000. PMID: 10874313

2

Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.

Kuhrová V, Francová H, Zapletalová P, Freiberger T, Fajkusová L, Hrabincová E, Slováĉková R, Kozák L, Slováková R. Kuhrová V, et al. Among authors: hrabincova e. Hum Mutat. 2002 Jan;19(1):80. doi: 10.1002/humu.9000. Hum Mutat. 2002. PMID: 11754108

3

Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.

Skopková Z, Hrabincová E, Stástná S, Kozák L, Adam T. Skopková Z, et al. Among authors: hrabincova e. Ann Hum Genet. 2005 Sep;69(Pt 5):501-7. doi: 10.1111/j.1529-8817.2005.00185.x. Ann Hum Genet. 2005. PMID: 16138908

4

Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.

Kuhrová V, Francová H, Zapletalová P, Freiberger T, Fajkusová L, Hrabincová E, Slováková R, Kozák L. Kuhrová V, et al. Among authors: hrabincova e. Hum Mutat. 2001 Sep;18(3):253. doi: 10.1002/humu.1185. Hum Mutat. 2001. PMID: 11524740 Corrected and republished.

5

Smith-Lemli-Opitz syndrome: molecular-genetic analysis of ten families.

Kozák L, Francová H, Hrabincová E, Procházková D, Jüttnerová V, Bzdúch V, Simek P. Kozák L, et al. Among authors: hrabincova e. J Inherit Metab Dis. 2000 Jun;23(4):409-12. doi: 10.1023/a:1005616321794. J Inherit Metab Dis. 2000. PMID: 10896306 No abstract available.

6

Screening of the most common medium-chain acyl CoA dehydrogenase (MCAD) deficiency mutation (K329E) in the Czech newborn population.

Kozàk L, Hrabincovà E, Rudolfoà J, Vràbelovà S, Freiberger T. Kozàk L, et al. Among authors: hrabincova e. Southeast Asian J Trop Med Public Health. 1999;30 Suppl 2:49-50. Southeast Asian J Trop Med Public Health. 1999. PMID: 11400780

7

Maternal hyperphenylalaninemias in healthy Czech population of pregnant women: 30 years experience with screening, prevention and treatment.

Hyanek J, Kozak L, Hrabincova E, Trnka V, Kobilkova J, Dolezal A, Soukup K, Zeman J, Stastna S, Vadurova L, Krijt J, Viletova H, Cervena M, Paterova T. Hyanek J, et al. Among authors: hrabincova e. Bratisl Lek Listy. 2004;105(9):291-8. Bratisl Lek Listy. 2004. PMID: 15633889

8

Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: evidence for both homologous and non-homologous mechanisms of rearrangement.

Kozak L, Hrabincova E, Kintr J, Horky O, Zapletalova P, Blahakova I, Mejstrik P, Prochazkova D. Kozak L, et al. Among authors: hrabincova e. Mol Genet Metab. 2006 Dec;89(4):300-9. doi: 10.1016/j.ymgme.2006.06.007. Epub 2006 Aug 22. Mol Genet Metab. 2006. PMID: 16931086

9

Genetic diversity within the R408W phenylketonuria mutation lineages in Europe.

Tighe O, Dunican D, O'Neill C, Bertorelle G, Beattie D, Graham C, Zschocke J, Cali F, Romano V, Hrabincova E, Kozak L, Nechyporenko M, Livshits L, Guldberg P, Jurkowska M, Zekanowski C, Perez B, Desviat LR, Ugarte M, Kucinskas V, Knappskog P, Treacy E, Naughten E, Tyfield L, Byck S, Scriver CR, Mayne PD, Croke DT. Tighe O, et al. Among authors: hrabincova e. Hum Mutat. 2003 Apr;21(4):387-93. doi: 10.1002/humu.10195. Hum Mutat. 2003. PMID: 12655548

10

Metabolic cause of Reye-like syndrome.

Bzduch V, Behulova D, Lehnert W, Fabriciova K, Kozak L, Salingova A, Hrabincova E, Benedekova M. Bzduch V, et al. Among authors: hrabincova e. Bratisl Lek Listy. 2001;102(9):427-9. Bratisl Lek Listy. 2001. PMID: 11763681

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