tallózása szerző szerint "Battelino T"

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Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia.

Votava F; Török, Dóra; Kovacs J; Moslinger D; Baumgartner-Parzer SM; Sólyom, János; Pribilincova Z; Battelino T; Lebl J; Frisch H; Waldhauser F; Middle European Society for Paediatric Endocrinology – Congenital Adrenal Hyperplasia (MESPE-CAH) Study Group (2005)

OBJECTIVE: Newborn screening based on measurement of 17alpha-hydroxyprogesterone (17-OHP) in a dried blood spot on filter paper is an effective tool for early diagnosis of congenital adrenal hyperplasia (CAH) due to ...
Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia

Dolzan V; Sólyom, János; Fekete, György; Kovacs J; Rakosnikova V; Votava F; Lebl J; Pribilincova Z; Baumgartner-Parzer SM; Riedl S; Waldhauser F; Frisch H; Stopar-Obreza M; Krzisnik C; Battelino T (2005)

OBJECTIVE: To analyze the mutational spectrum of steroid 21-hydroxylase (CYP21) and the genotype- phenotype correlation in patients with congenital adrenal hyperplasia (CAH) registered in the Middle European Society for ...

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