52nd Conference of the European-Society-of-Human-Genetics (ESHG) -- JUN 15-18, 2019 -- Gothenburg, SWEDENWOS: 000489313907195…European Soc Human Gene
Congenital adrenal hyperplasias (CAH) are inherited defects of cortisol biosynthesis. More than 90 %...
SUMMARY. A robust assay for routine measurement of blood-spot 17a-hydroxyprogesterone (17-0HP) conce...
Steroid 21-hydroxylase deficiency due to CYP21A2 gene mutations represents more than 90% of all cong...
© 2018 Elsevier B.V. Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused ...
ylase (CYP21) deficiency is performed to identify con-genital adrenal hyperplasia (CAH). The immunol...
ylase (CYP21) deficiency is performed to identify con-genital adrenal hyperplasia (CAH). The immunol...
OBJETIVOS: avaliar se os níveis de 17-hidroxiprogesterona podem predizer o resultado do teste de est...
Aim. Aim of the study was to investigate the need to perform the adrenocorticotropic hormone (ACTH) ...
[[abstract]]Congenital adrenal hyperplasia (CAH), a disorder caused by a deficiency of the 21-hydrox...
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting cortisol ...
Congenital adrenal hyperplasia (CAH) comprises a group of rare autosomal recessively inherited disor...
Summary: Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from t...
[[abstract]]A rapid, simple, and specific method was developed for the diagnosis of congenital adren...
Heterozygote carriers of 21-hydroxylase deficiency (21-OHD) cannot be detected by measurements of ba...
Item does not contain fulltextCongenital adrenal hyperplasia (CAH) is a group of autosomal recessive...
Congenital adrenal hyperplasias (CAH) are inherited defects of cortisol biosynthesis. More than 90 %...
SUMMARY. A robust assay for routine measurement of blood-spot 17a-hydroxyprogesterone (17-0HP) conce...
Steroid 21-hydroxylase deficiency due to CYP21A2 gene mutations represents more than 90% of all cong...
© 2018 Elsevier B.V. Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused ...
ylase (CYP21) deficiency is performed to identify con-genital adrenal hyperplasia (CAH). The immunol...
ylase (CYP21) deficiency is performed to identify con-genital adrenal hyperplasia (CAH). The immunol...
OBJETIVOS: avaliar se os níveis de 17-hidroxiprogesterona podem predizer o resultado do teste de est...
Aim. Aim of the study was to investigate the need to perform the adrenocorticotropic hormone (ACTH) ...
[[abstract]]Congenital adrenal hyperplasia (CAH), a disorder caused by a deficiency of the 21-hydrox...
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting cortisol ...
Congenital adrenal hyperplasia (CAH) comprises a group of rare autosomal recessively inherited disor...
Summary: Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from t...
[[abstract]]A rapid, simple, and specific method was developed for the diagnosis of congenital adren...
Heterozygote carriers of 21-hydroxylase deficiency (21-OHD) cannot be detected by measurements of ba...
Item does not contain fulltextCongenital adrenal hyperplasia (CAH) is a group of autosomal recessive...
Congenital adrenal hyperplasias (CAH) are inherited defects of cortisol biosynthesis. More than 90 %...
SUMMARY. A robust assay for routine measurement of blood-spot 17a-hydroxyprogesterone (17-0HP) conce...
Steroid 21-hydroxylase deficiency due to CYP21A2 gene mutations represents more than 90% of all cong...