Results 151 to 160 of about 19,224 (187)

CAHQL: A Patient-Reported Outcome Instrument to Assess Health-Related Quality of Life in Congenital Adrenal Hyperplasia.

J Clin Endocrinol Metab
Flokas ME, Yang L, Middleton KR, Kollender S, Parker M, Sukin C, Persky RW, Merke DP.   +7 more
europepmc   +1 more source

Life With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: Challenges and Burdens.

J Clin Endocrinol Metab
Witchel SF, Miller T, McCann E, Gupta A.
europepmc   +1 more source

Future Directions in the Management of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

J Clin Endocrinol Metab
Sarafoglou K, Auchus RJ.
europepmc   +1 more source

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Congenital Adrenal Hyperplasia

New England Journal of Medicine, 1987
Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from the deficiency of one of the enzymes required for cortisol synthesis in the adrenal cortex.
Phyllis W. Speiser, Maria I. New, Perrin C. White   +2 more
openaire   +10 more sources

Congenital Adrenal Hyperplasia

Clinical Biochemistry, 1973
The enzyme defects of steroidogenesis appear to be monogenic disorders. The clinical heterogeneity of these disorders suggests allelic variations at the loci for these disorders, as has been reported for other gentic inborn errors. When the genes for these enzymes are cloned and sequenced, the final proof of allelism will be obtained.
Lenore S. Levine, Maria I. New
openaire   +6 more sources

Congenital adrenal hyperplasia

Clinical Biochemistry, 2011
Congenital adrenal hyperplasia (CAH) due to P450c21 (21-hydroxylase deficiency) is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features reflect the magnitude of the loss of function mutations.
Ricardo Azziz, Selma F. Witchel
openaire   +6 more sources