Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Ilona Milánkovics"'
Publikováno v:
Journal of Inherited Metabolic Disease. 33:289-292
Biotinidase deficiency, an autosomal recessively inherited disorder, is characterized by neurologic and cutaneous symptoms and can be detected by newborn screening. In Hungary the national screening programme was launched in 1989 with two screening c
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
Publikováno v:
Orvosi hetilap. 150(28)
A klasszikus galactosaemia autoszomális recesszív módon öröklődő anyagcsere-betegség, amelynek hátterében a galaktóz-1-foszfát-uridil-transzferáz (GALT) enzim defektusa áll. Hazánkban a betegséget az újszülöttkori tömegszűrés ke
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