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17 a -hydroxylase deficiency相关文献:
17 alpha-Hydroxylase/17,20-lyase defects.
Yanase T.
J Steroid Biochem Mol Biol. 1995 Jun;53(1-6):153-7. doi: 10.1016/0960-0760(95)00029-y.
PMID:7626447
Ovarian gonadoblastoma with dysgerminoma in a girl with 46,XX karyotype 17a-hydroxylase/17, 20-lyase deficiency: A case report and literature review.
Yin M, Yang J, Tian Q, Zhang X.
Front Endocrinol (Lausanne). 2022 Dec 15;13:989695. doi: 10.3389/fendo.2022.989695. eCollection 2022.
PMID:36589847
An Asian case of combined 17alpha-hydroxylase/17,20-lyase deficiency due to homozygous p.R96Q mutation: A case report and review of the literature.
Liao Q, Shen R, Liao M, Ran C, Zhou L, Zhang Y, Peng G, Sun Z, Zheng H, Long M.
Front Endocrinol (Lausanne). 2022 Oct 19;13:989447. doi: 10.3389/fendo.2022.989447. eCollection 2022.
PMID:36339422
Disorders of steroid 17 alpha-hydroxylase deficiency.
Kater CE, Biglieri EG.
Endocrinol Metab Clin North Am. 1994 Jun;23(2):341-57.
PMID:8070426
A rare case of 17alpha-hydroxylase/17, 20-lyase deficiency: Clinical and genetic findings and follow-up outcomes.
Dai LZ, Ma H, Ke JF, Lin CS, Huang Y, Tian Y, Chen D.
Womens Health (Lond). 2022 Jan-Dec;18:17455057221122597. doi: 10.1177/17455057221122597.
PMID:36129002
Phenotypic Heterogeneity and Fertility Potential of Patients With 17-Hydroxylase/17,20-lyase Deficiency.
Xu Y, Jiang S, Yan Z, Niu Y, Du W, Liu B, Han B, Liu X, Zhao S, Song H, Kuang Y, Qiao J.
J Clin Endocrinol Metab. 2022 May 17;107(6):e2610-e2618. doi: 10.1210/clinem/dgac029.
PMID:35043964
[17-alpha-hydroxylase deficiency].
Endo J, Kono T, Yoshimi T.
Nihon Rinsho. 1971 Mar;29(3):1000-5.
PMID:4324171
Endocrine profiles and cycle characteristics of infertile 17alpha-hydroxylase/17,20-lyase Deficiency Patients undergoing assisted Reproduction Treatment: a retrospective cohort study.
Pan P, Zheng L, Huang J, Chen X, Ni R, Zhang Q, Yang D, Li Y.
J Ovarian Res. 2023 Jun 14;16(1):111. doi: 10.1186/s13048-023-01190-6.
PMID:37316894
Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic.
Auchus RJ.
J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):71-78. doi: 10.1016/j.jsbmb.2016.02.002. Epub 2016 Feb 6.
PMID:26862015
Molecular basis of 17alpha-hydroxylase/17,20-lyase deficiency.
Yanase T, Imai T, Simpson ER, Waterman MR.
J Steroid Biochem Mol Biol. 1992 Dec;43(8):973-9. doi: 10.1016/0960-0760(92)90325-D.
PMID:22217842
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