© 2018 Elsevier B.V. Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by the deficiency of one of the five enzymes involved in the biosynthesis of corticosteroids. The most common form of the disease is the lack of 21-hydroxylase which provokes an accumulation of high levels of 17α-hydroxyprogesterone (17-OHP), the main biochemical marker for illness detection. Given the significance of neonatal diagnosis for ensuring a timely treatment to patients suffering from CAH, newborn screening is worldwide performed for the determination of 17-OHP from dried blood spots on filter paper. The non-specificity of antisera employed in immunoassays and the cross-reaction with fetal adrenal hormones produce an overestimation ...
OBJECTIVE: Newborn screening based on measurement of 17alpha-hydroxyprogesterone (17-OHP) in a dried...
Congenital adrenal hyperplasia (CAH) occurs due to enzyme defects in adrenal steroidogenesis. The 21...
ylase (CYP21) deficiency is performed to identify con-genital adrenal hyperplasia (CAH). The immunol...
[[abstract]]Congenital adrenal hyperplasia (CAH), a disorder caused by a deficiency of the 21-hydrox...
Congenital adrenal hyperplasia (CAH) comprises a group of rare autosomal recessively inherited disor...
Congenital adrenal hyperplasia (CAH) is well suited for newborn screening, as it is a common and pot...
Autoreferát 5 Summary Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disease...
A neonatal screening for both 21-hydroxylase and 11-beta-hydroxylase deficiencies, responsible for c...
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting cortisol ...
Item does not contain fulltextCongenital adrenal hyperplasia (CAH) is a group of autosomal recessive...
[[abstract]]A rapid, simple, and specific method was developed for the diagnosis of congenital adren...
WOS: 000312685400045PubMed ID: 22985688Background: Congenital adrenal hyperplasia (CAH) is an autoso...
Congenital adrenal hyperplasia (CAH) is a group of disorders with autosomal recessive inheritance an...
SUMMARY. A robust assay for routine measurement of blood-spot 17a-hydroxyprogesterone (17-0HP) conce...
Between 2005 and 2021, 49 cases of classical congenital adrenal hyperplasia were diagnosed in New Ze...
OBJECTIVE: Newborn screening based on measurement of 17alpha-hydroxyprogesterone (17-OHP) in a dried...
Congenital adrenal hyperplasia (CAH) occurs due to enzyme defects in adrenal steroidogenesis. The 21...
ylase (CYP21) deficiency is performed to identify con-genital adrenal hyperplasia (CAH). The immunol...
[[abstract]]Congenital adrenal hyperplasia (CAH), a disorder caused by a deficiency of the 21-hydrox...
Congenital adrenal hyperplasia (CAH) comprises a group of rare autosomal recessively inherited disor...
Congenital adrenal hyperplasia (CAH) is well suited for newborn screening, as it is a common and pot...
Autoreferát 5 Summary Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disease...
A neonatal screening for both 21-hydroxylase and 11-beta-hydroxylase deficiencies, responsible for c...
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting cortisol ...
Item does not contain fulltextCongenital adrenal hyperplasia (CAH) is a group of autosomal recessive...
[[abstract]]A rapid, simple, and specific method was developed for the diagnosis of congenital adren...
WOS: 000312685400045PubMed ID: 22985688Background: Congenital adrenal hyperplasia (CAH) is an autoso...
Congenital adrenal hyperplasia (CAH) is a group of disorders with autosomal recessive inheritance an...
SUMMARY. A robust assay for routine measurement of blood-spot 17a-hydroxyprogesterone (17-0HP) conce...
Between 2005 and 2021, 49 cases of classical congenital adrenal hyperplasia were diagnosed in New Ze...
OBJECTIVE: Newborn screening based on measurement of 17alpha-hydroxyprogesterone (17-OHP) in a dried...
Congenital adrenal hyperplasia (CAH) occurs due to enzyme defects in adrenal steroidogenesis. The 21...
ylase (CYP21) deficiency is performed to identify con-genital adrenal hyperplasia (CAH). The immunol...