RT Journal Article
T1 Pregnanetriolone in paper-borne urine for neonatal screening for 21-hydroxylase deficiency: The place of urine in neonatal screening
A1 Alonso Fernández, José Ramón
K1 Newborn screening
K1 Congenital adrenal hyperplasia (CAH)
K1 Urine sample on paper
K1 Pregnanetriolone
AB The standard method of primary neonatal screening for congenital adrenal hyperlasia (CAH), determination of17-hydroxyprogesterone (17OHP) in heelprick blood, is the object of recurrent controversy because of its poordiagnostic and economic efficiency. The superior ability of urinary pregnanetriolone levels to discriminate betweeninfants with and without classical CAH has been known for some time, but has not hitherto been exploitedfor primary screening. Here we propose an economical neonatal CAH-screening system based on fluorimetric determinationof the product of reaction between urinary pregnanetriolone and phosphoric acid
PB Elsevier
SN 2214-4269
YR 2016
FD 2016-08-18
LK http://hdl.handle.net/10347/15913
UL http://hdl.handle.net/10347/15913
LA eng
DS Minerva
RD 3 may 2026