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17-hydroxylase deficiency相关文献:
New insights on hyperglycemia in 17-hydroxylase/17,20-lyase deficiency.
Xu L, Lu L, Tong A, Chen S, Li W, Zhang H, Ping F, Li Y.
Front Endocrinol (Lausanne). 2022 Jul 22;13:917420. doi: 10.3389/fendo.2022.917420. eCollection 2022.
PMID:35937831
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
Disorders of steroid 17 alpha-hydroxylase deficiency.
Kater CE, Biglieri EG.
Endocrinol Metab Clin North Am. 1994 Jun;23(2):341-57.
PMID:8070426
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/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
[17 Alpha-hydroxylase deficiency].
Hachiya R, Hasegawa T.
Nihon Rinsho. 2006 May 28;Suppl 1:689-91.
PMID:16776249
A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation.
Kim YM, Kang M, Choi JH, Lee BH, Kim GH, Ohn JH, Kim SY, Park MS, Yoo HW.
Metabolism. 2014 Jan;63(1):42-9. doi: 10.1016/j.metabol.2013.08.015. Epub 2013 Oct 18.
PMID:24140098
[17 alpha-hydroxylase deficiency].
Ando K.
Nihon Rinsho. 2000 Feb;58 Suppl 2:659-63.
PMID:11028422
A novel homozygous CYP17A1 mutation causes partial 17 alpha-hydroxylase/17,20-lyase deficiency in 46,XX: a case report and literature review.
Chen H, Chen Y, Mao H, Huang H, Lou X.
Blood Press. 2023 Dec;32(1):2195008. doi: 10.1080/08037051.2023.2195008.
PMID:37088984
Congenital adrenal hyperplasia disorder due to 17 alpha-hydroxylase deficiency: a case report.
Tian Y, Hou L, Xiang S, Tian X, Xu J.
Gynecol Endocrinol. 2023 Aug 18;39(1):2250001. doi: 10.1080/09513590.2023.2250001.
PMID:37683689
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