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Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.
Claahsen-van der Grinten HL, Speiser PW, Ahmed SF, Arlt W, Auchus RJ, Falhammar H, Flück CE, Guasti L, Huebner A, Kortmann BBM, Krone N, Merke DP, Miller WL, Nordenström A, Reisch N, Sandberg DE, Stikkelbroeck NMML, Touraine P, Utari A, Wudy SA, White PC. Claahsen-van der Grinten HL, et al. Among authors: touraine p. Endocr Rev. 2022 Jan 12;43(1):91-159. doi: 10.1210/endrev/bnab016. Endocr Rev. 2022. PMID: 33961029 Free PMC article. Review.
Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members.
Bidet M, Bellanné-Chantelot C, Galand-Portier MB, Tardy V, Billaud L, Laborde K, Coussieu C, Morel Y, Vaury C, Golmard JL, Claustre A, Mornet E, Chakhtoura Z, Mowszowicz I, Bachelot A, Touraine P, Kuttenn F. Bidet M, et al. Among authors: touraine p. J Clin Endocrinol Metab. 2009 May;94(5):1570-8. doi: 10.1210/jc.2008-1582. Epub 2009 Feb 10. J Clin Endocrinol Metab. 2009. PMID: 19208730
Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN).
Eggermann T, Elbracht M, Kurth I, Juul A, Johannsen TH, Netchine I, Mastorakos G, Johannsson G, Musholt TJ, Zenker M, Prawitt D, Pereira AM, Hiort O; European Reference Network on Rare Endocrine Conditions (ENDO-ERN. Eggermann T, et al. Orphanet J Rare Dis. 2020 Jun 8;15(1):144. doi: 10.1186/s13023-020-01420-w. Orphanet J Rare Dis. 2020. PMID: 32513286 Free PMC article. Review.
240 results