Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Flóra Fodor"'
Publikováno v:
Orvosi Hetilap. 157:1007-1012
Introduction: Adult type hypolactasia is the most prevalent carbohydrate malabsorption. Aim: To assess the distribution of lactase gene C/T-13910 polymorphism and the accuracy and concordance of a genetic test and H2 breath test in the diagnosis of a
Publikováno v:
Orvosi hetilap. 157(25)
Adult type hypolactasia is the most prevalent carbohydrate malabsorption.To assess the distribution of lactase gene C/T-13910 polymorphism and the accuracy and concordance of a genetic test and H(2) breath test in the diagnosis of adult type hypolact
Publikováno v:
Molecular Genetics and Metabolism. 90:345-348
In Hungary the national newborn screening programme for the detection of biotinidase deficiency was launched in 1989. In this study, we determined the genotypes of all patients identified at the Budapest Screening Centre that covers half of the count
Autor:
Flóra Fodor, György Fekete, Csilla Somogyi, Ilona Milánkovics, Ágnes Schuler, Enikő Kámory, Krisztina Németh, Béla Csókay
Publikováno v:
Wiener klinische Wochenschrift. 122(3-4)
BACKGROUND: Classic galactosemia is an autosomal recessively inherited disorder caused by deficient activity of the enzyme galactose-1-phosphate uridyltransferase. The disorder can be detected by newborn screening and in Hungary the national screenin
Publikováno v:
Genetic testing. 11(2)
Klinefelter syndrome is the most common genetic cause of severe male factor infertility. Cytogenetic evaluation of metaphase chromosomes generally has a long turnaround time. We describe a reliable molecular genetic method that can be completed in 2