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21-hydroxylase deficiency相关文献:
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline.
Speiser PW, Arlt W, Auchus RJ, Baskin LS, Conway GS, Merke DP, Meyer-Bahlburg HFL, Miller WL, Murad MH, Oberfield SE, White PC.
J Clin Endocrinol Metab. 2018 Nov 1;103(11):4043-4088. doi: 10.1210/jc.2018-01865.
PMID:30272171
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Merke DP, Auchus RJ.
N Engl J Med. 2020 Sep 24;383(13):1248-1261. doi: 10.1056/NEJMra1909786.
PMID:32966723
Clinical outcomes in 21-hydroxylase deficiency.
Nordenström A, Lajic S, Falhammar H.
Curr Opin Endocrinol Diabetes Obes. 2021 Jun 1;28(3):318-324. doi: 10.1097/MED.0000000000000625.
PMID:33741777
Steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia.
Parsa AA, New MI.
J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):2-11. doi: 10.1016/j.jsbmb.2016.06.015. Epub 2016 Jul 2.
PMID:27380651
Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach.
Arriba M, Ezquieta B.
Front Endocrinol (Lausanne). 2022 Mar 29;13:834549. doi: 10.3389/fendo.2022.834549. eCollection 2022.
PMID:35422767
Monitoring treatment in pediatric patients with 21-hydroxylase deficiency.
Itonaga T, Hasegawa Y.
Front Endocrinol (Lausanne). 2023 Feb 3;14:1102741. doi: 10.3389/fendo.2023.1102741. eCollection 2023.
PMID:36843618
Interpretation of Steroid Biomarkers in 21-Hydroxylase Deficiency and Their Use in Disease Management.
Sarafoglou K, Merke DP, Reisch N, Claahsen-van der Grinten H, Falhammar H, Auchus RJ.
J Clin Endocrinol Metab. 2023 Aug 18;108(9):2154-2175. doi: 10.1210/clinem/dgad134.
PMID:36950738
CYP21A2 intronic variants causing 21-hydroxylase deficiency.
Concolino P, Rizza R, Costella A, Carrozza C, Zuppi C, Capoluongo E.
Metabolism. 2017 Jun;71:46-51. doi: 10.1016/j.metabol.2017.03.003. Epub 2017 Mar 9.
PMID:28521877
Current and future perspectives on clinical management of classic 21-hydroxylase deficiency.
Yogi A, Kashimada K.
Endocr J. 2023 Oct 30;70(10):945-957. doi: 10.1507/endocrj.EJ23-0075. Epub 2023 Jun 29.
PMID:37380491
Congenital Adrenal Hyperplasia.
Fraga NR, Minaeian N, Kim MS.
Pediatr Rev. 2024 Feb 1;45(2):74-84. doi: 10.1542/pir.2022-005617.
PMID:38296783
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