Add to ORKGylase (CYP21) deficiency is performed to identify con-genital adrenal hyperplasia (CAH). The immunologic assay for 17-hydroxyprogesterone (17-OHP) has a high rate of false positives. We assessed the potential for increasing the specificity for CAH by use of a second step involving analysis of the CYP21 gene
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder and affects approximately 1 ...
Background: Congenital adrenal hyperplasia (CAH) due to mutations in the gene encoding 21-hydroxilas...
Congenital adrenal hyperplasia, due to 21-hydroxylase deficiency (21-OHD) is an autosomal recessive ...
ylase (CYP21) deficiency is performed to identify con-genital adrenal hyperplasia (CAH). The immunol...
The most common form of congenital adrenal hyperplasia (CAH) results from a deficiency of the 21-hyd...
Background: Congenital adrenal hyperplasia (CAH) is a frequent autosomal recessive disease, with a w...
Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders caused by mutation...
[[abstract]]Mutation analysis of CYP21A2 gene was performed in seven patients with congenital adrena...
Congenital Adrenal Hyperplasia (CAH) can be due to one of seven different enzymes involved in the sy...
Objective: Adrenal incidentalomas (AIs) may be due to congenital adrenal hyperplasia (CAH) due to ho...
Congenital adrenal hyperplasia (CAH) is a disorder of adrenal steroid synthesis. In more than 90% of...
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroido...
AbstractContextMolecular diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase def...
Congenital adrenal hyperplasias (CAH) are inherited defects of cortisol biosynthesis. More than 90 %...
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by defects in one of ...
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder and affects approximately 1 ...
Background: Congenital adrenal hyperplasia (CAH) due to mutations in the gene encoding 21-hydroxilas...
Congenital adrenal hyperplasia, due to 21-hydroxylase deficiency (21-OHD) is an autosomal recessive ...
ylase (CYP21) deficiency is performed to identify con-genital adrenal hyperplasia (CAH). The immunol...
The most common form of congenital adrenal hyperplasia (CAH) results from a deficiency of the 21-hyd...
Background: Congenital adrenal hyperplasia (CAH) is a frequent autosomal recessive disease, with a w...
Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders caused by mutation...
[[abstract]]Mutation analysis of CYP21A2 gene was performed in seven patients with congenital adrena...
Congenital Adrenal Hyperplasia (CAH) can be due to one of seven different enzymes involved in the sy...
Objective: Adrenal incidentalomas (AIs) may be due to congenital adrenal hyperplasia (CAH) due to ho...
Congenital adrenal hyperplasia (CAH) is a disorder of adrenal steroid synthesis. In more than 90% of...
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroido...
AbstractContextMolecular diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase def...
Congenital adrenal hyperplasias (CAH) are inherited defects of cortisol biosynthesis. More than 90 %...
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by defects in one of ...
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder and affects approximately 1 ...
Background: Congenital adrenal hyperplasia (CAH) due to mutations in the gene encoding 21-hydroxilas...
Congenital adrenal hyperplasia, due to 21-hydroxylase deficiency (21-OHD) is an autosomal recessive ...