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1975 2
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Page 1
Steroid 11 beta-hydroxylase deficiency and related disorders.
White PC. White PC. Endocrinol Metab Clin North Am. 2001 Mar;30(1):61-79, vi. doi: 10.1016/s0889-8529(08)70019-7. Endocrinol Metab Clin North Am. 2001. PMID: 11344939 Review.
Three disorders result from mutations involving two closely linked 11 beta-hydroxylase genes. Steroid 11 beta-hydroxylase deficiency results from mutations in CYP11B1. ...
Three disorders result from mutations involving two closely linked 11 beta-hydroxylase genes. Steroid 11 beta-hydroxylase …
Clinical perspectives in congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
Bulsari K, Falhammar H. Bulsari K, et al. Endocrine. 2017 Jan;55(1):19-36. doi: 10.1007/s12020-016-1189-x. Epub 2016 Dec 7. Endocrine. 2017. PMID: 27928728 Review.
Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency is a rare autosomal recessive genetic disorder. ...The level of in-vivo activity of CYP11B1 relates to the degree of severity of 11 beta-hydroxylase deficiency …
Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency is a rare autosomal recessive genetic disor …
Prenatal treatment of congenital adrenal hyperplasia. The United States experience.
New MI. New MI. Endocrinol Metab Clin North Am. 2001 Mar;30(1):1-13. doi: 10.1016/s0889-8529(08)70016-1. Endocrinol Metab Clin North Am. 2001. PMID: 11344929 Review.
Based on the author's experience, prenatal diagnosis and treatment of 21-hydroxylase deficiency is safe and effective in significantly reducing or eliminating virilization in the affected female, and the same outcome seems to be true in the treatment of 11 beta-h …
Based on the author's experience, prenatal diagnosis and treatment of 21-hydroxylase deficiency is safe and effective in significantly reduc …
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency in a Tunisian family.
Elfekih H, Abdelkrim AB, Marzouk H, Saad G, Gribaa M, Hasni Y, Maaroufi A. Elfekih H, et al. Pan Afr Med J. 2020 Jul 28;36:226. doi: 10.11604/pamj.2020.36.226.24270. eCollection 2020. Pan Afr Med J. 2020. PMID: 33708317 Free PMC article.
Congenital adrenal hyperplasia refers to a group of rare genetic disorders affecting the adrenal glands. 21-hydroxylase deficiency is the most prevalent and the most studied cause while the remaining enzymatic defects are less common, accounting for less than 10% of cases. We her …
Congenital adrenal hyperplasia refers to a group of rare genetic disorders affecting the adrenal glands. 21-hydroxylase deficiency is the mo …
Does primary salt wasting occur in 11-beta-hydroxylase deficiency?
Singer-Granick C, Hill ID, Rolston RK. Singer-Granick C, et al. J Pediatr Endocrinol Metab. 1995 Oct-Dec;8(4):275-80. doi: 10.1515/jpem.1995.8.4.275. J Pediatr Endocrinol Metab. 1995. PMID: 8821905 Review.
Renal salt wasting secondary to 11-beta-hydroxylase deficiency (11-beta-OHD) has been described in a few patients. ...
Renal salt wasting secondary to 11-beta-hydroxylase deficiency (11-beta-OHD) has been described in a few patient …
Clinical variability of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency.
Rösler A, Leiberman E, Sack J, Landau H, Benderly A, Moses SW, Cohen T. Rösler A, et al. Horm Res. 1982;16(3):133-41. doi: 10.1159/000179494. Horm Res. 1982. PMID: 7049883
Studies in 18 Jewish families from Morocco, Tunis, Turkey and Iran revealed 26 patients with congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. The clinical expression of androgen excess varied widely in affected females, and …
Studies in 18 Jewish families from Morocco, Tunis, Turkey and Iran revealed 26 patients with congenital adrenal hyperplasia due to 11 …
38 results