tallózása szerző szerint "Milánkovics, Ilona"

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A Los Angeles és Duarte galaktóz-1-foszfát-uridil-transzferáz-variánsok allélgyakorisága a magyar populációban

Milánkovics, Ilona; Schuler A; Németh, Krisztina; Somogyi C; Fekete, György (2009)

Classical galactosaemia is an autosomal recessively inherited disorder caused by deficient activity of the enzyme galactose-1-phosphate uridyltransferase (GALT), which can be detected by newborn screening. The p.N314D ...
High frequencies of biotinidase (BTD) gene mutations in the Hungarian population

Milánkovics, Ilona; Németh, Krisztina; Somogyi C; Schuler A; Fekete, György (2010)

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 ...
Molecular and clinical analysis of patients with classic and Duarte galactosemia in western Hungary

Milánkovics, Ilona; Schuler A; Kamory E; Csokay B; Fodor F; Somogyi C; Németh, Krisztina; Fekete, György (2010)

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 ...

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