K Srsnova
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Explore the profile of K Srsnova including associated specialties, affiliations and a list of published articles.
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34
Citations
85
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Recent Articles
1.
Zibolen M, Srsnova K, Srsen S
Clin Genet
. 2000 Aug;
58(1):79-80.
PMID: 10945668
No abstract available.
2.
Muller C, Fregin A, Srsen S, Srsnova K, Halliger-Keller B, Felbor U, et al.
Eur J Hum Genet
. 1999 Sep;
7(6):645-51.
PMID: 10482952
Defects of the homogentisate 1,2 dioxygenase (HGO; E.C. No. 1.13.11.5) have been identified as the molecular cause of alkaptonuria in humans (AKU) and the aku mouse. Here, we report on...
3.
Srsen S, Srsnova K, Zibolen M
Bratisl Lek Listy
. 1999 Jan;
99(12):652-8.
PMID: 9919775
Congenital defects of cardiovascular system have marked impact on the morbidity, invalidization and mortality of human population. Genetic factors are the most important factors in their etiology. The authors analyze...
4.
Gehrig A, Schmidt S, Muller C, Srsen S, Srsnova K, Kress W
Cytogenet Cell Genet
. 1997 Jan;
76(1-2):14-6.
PMID: 9154114
At the dawn of human genetics Sir Archibald Garrod used alkaptonuria as a paradigm to demonstrate the applicability of the Mendelian laws to men and to develop the concept of...
5.
JANOCHA S, Wolz W, Srsen S, Srsnova K, Montagutelli X, Guenet J, et al.
Genomics
. 1994 Jan;
19(1):5-8.
PMID: 8188241
Alkaptonuria (AKU; McKusick no. 203500) is a rare autosomal recessive disorder caused by the lack of homogentisic acid oxidase activity. Patients excrete large amounts of homogentisic acid in their urine...
6.
Misovicova N, Srsnova K
Cesk Pediatr
. 1993 May;
48(5):262-4.
PMID: 8374962
In the child population in the district of Dolný Kubín the authors screened during a five-year period children with a suspect genetic aetiology of affections. They examined a total of...
7.
Srsen S, Javorkova J, Korinkova L, Srsnova K, Kukura F, Halasova E, et al.
Cesk Pediatr
. 1992 Feb;
47(2):78-9.
PMID: 1572016
No abstract available.
8.
Srsnova K, Bencat M, Srsen S, Mihalikova J, Slavik P, Svihrova V
Funct Dev Morphol
. 1992 Jan;
2(2):133-4.
PMID: 1450458
No abstract available.
9.
Jakobs C, Ten Brink H, Langelaar S, Zee T, Stellaard F, Macek M, et al.
J Inherit Metab Dis
. 1991 Jan;
14(5):653-60.
PMID: 1779610
A sensitive and selective analytical technique is described for the determination of N-acetylaspartic acid in body fluids using stable isotope dilution in combination with positive chemical ionization mass spectrometry with...
10.
Srsen S, Misovicova N, Srsnova K, Volna J
Cesk Psychiatr
. 1989 Feb;
85(1):9-16.
PMID: 2522354
Mental retardation (MR) is a frequent manifestation in patients referred to departments of medical genetics (OLG). At the OLG in Martin their number in the years 1981-1985 was 324, i.e....