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名词信息
中 文 名:
21-羟化酶缺乏症
英 文 名:
21-hydroxylase deficiency
中文又称:
21-羟化酶缺陷
中文曾称:
名词来源:
所属专业:
内分泌科
所属类别:
疾病诊断名词
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Pubmed相关的文献
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
Crinecerfont Lowers Elevated Hormone Markers in Adults With 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia.
Auchus RJ, Sarafoglou K, Fechner PY, Vogiatzi MG, Imel EA, Davis SM, Giri N, Sturgeon J, Roberts E, Chan JL, Farber RH.
J Clin Endocrinol Metab. 2022 Feb 17;107(3):801-812. doi: 10.1210/clinem/dgab749.
PMID:34653252
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
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
[Steroid 21-hydroxylase deficiency, the most frequent cause of congenital adrenal hyperplasia].
Doleschall M, Török D, Mészáros K, Luczay A, Halász Z, Németh K, Szücs N, Kiss R, Tőke J, Sólyom J, Fekete G, Patócs A, Igaz P, Tóth M.
Orv Hetil. 2018 Feb;159(7):269-277. doi: 10.1556/650.2018.30986.
PMID:29429350
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
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
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