TY - JOUR 
A1 - Alonso Fernández, José R
T1 - Pregnanetriolone in paper-borne urine for neonatal screening for 21-hydroxylase deficiency: The place of urine in neonatal screening
Y1 - 2016
SN - 2214-4269
UR - http://hdl.handle.net/20.500.11940/9950
AB - The standard method of primary neonatal screening for congenital adrenal hyperlasia (CAH), determination of 17-hydroxyprogesterone (17OHP) in heelprick blood, is the object of recurrent controversy because of its poor diagnostic and economic efficiency. The superior ability of urinary pregnanetriolone levels to discriminate between infants with and without classical CAH has been known for some time, but has not hitherto been exploited for primary screening. Here we propose an economical neonatal CAH-screening system based on fluorimetric determination of the product of reaction between urinary pregnanetriolone and phosphoric acid.
KW - Steroids
KW - Failure to Thrive
KW - Neonatal Screening
KW - Genotype
KW - cribado neonatal
KW - genotipo
KW - esteroides
KW - insuficiencia de crecimiento
KW - cribado neonatal
KW - esteroides
KW - genotipo
KW - insuficiencia de crecimiento
KW - Cribado neonatal
KW - Hiperplasia adrenal congénita
KW - Hiperplasia adrenal conxénita
LA - eng
ER -