Kozak L - Search Results

1

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

2

Serum free carnitine in medium chain acyl-CoA dehydrogenase deficiency.

Bzduch V, Behulova D, Salingova A, Ponec J, Fabriciova K, Kozak L. Bzduch V, et al. Among authors: kozak l. Bratisl Lek Listy. 2003;104(12):405-7. Bratisl Lek Listy. 2003. PMID: 15053333

3

Sacral dimple as a skin manifestation of the Smith-Lemli-Opitz syndrome.

Bzduch V, Behulova D, Kozak L. Bzduch V, et al. Among authors: kozak l. J Inherit Metab Dis. 2007 Apr;30(2):269-70. doi: 10.1007/s10545-007-0564-4. Epub 2007 Mar 8. J Inherit Metab Dis. 2007. PMID: 17347909 No abstract available.

4

Smith-Lemli-Opitz syndrome with extremely low plasma cholesterol.

Bzdúch V, Behúlová D, Kozák L, Skodová J, Véghová E, Dello Russo A, Corso G, Bauer F. Bzdúch V, et al. Among authors: kozak l. J Inherit Metab Dis. 2000 Sep;23(6):638-9. doi: 10.1023/a:1005646400244. J Inherit Metab Dis. 2000. PMID: 11032340 No abstract available.

5

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. Southeast Asian J Trop Med Public Health. 1999;30 Suppl 2:49-50. Southeast Asian J Trop Med Public Health. 1999. PMID: 11400780

6

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: kozak l. Bratisl Lek Listy. 2004;105(9):291-8. Bratisl Lek Listy. 2004. PMID: 15633889

7

Prenatal diagnosis of Smith-Lemli-Opitz syndrome by mutation analysis.

Bzdúch V, Kozák L, Francová H, Behúlová D. Bzdúch V, et al. Among authors: kozak l. Am J Med Genet. 2000 Nov 6;95(1):85. doi: 10.1002/1096-8628(20001106)95:1<85::aid-ajmg18>3.0.co;2-9. Am J Med Genet. 2000. PMID: 11074502 No abstract available.

8

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. 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.

9

[Historical aspects of the Smith-Lemli-Opitz syndrome].

Bzdúch V, Behúlová D, Skodová J, Skokňová M, Kozák L. Bzdúch V, et al. Among authors: kozak l. Cas Lek Cesk. 2014;153(1):36-9. Cas Lek Cesk. 2014. PMID: 24506692 Czech.

10

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. 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

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