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3β -hydroxysteroid dehydrogenase deficiency相关文献:
Congenital adrenal hyperplasia: clinical symptoms and diagnostic methods.
Podgórski R, Aebisher D, Stompor M, Podgórska D, Mazur A.
Acta Biochim Pol. 2018;65(1):25-33. doi: 10.18388/abp.2017_2343. Epub 2018 Mar 15.
PMID:29543924
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
Three cases of 3beta-hydroxysteroid dehydrogenase deficiency: Clinical analysis.
Chen L, Huang H, Zhang H, Zhu G, Zhu M.
Adv Clin Exp Med. 2021 Mar;30(3):289-299. doi: 10.17219/acem/131220.
PMID:33757164
Genotype, Mortality, Morbidity, and Outcomes of 3beta-Hydroxysteroid Dehydrogenase Deficiency in Algeria.
Ladjouze A, Donaldson M, Plotton I, Djenane N, Mohammedi K, Tardy-Guidollet V, Mallet D, Boulesnane K, Bouzerar Z, Morel Y, Roucher-Boulez F.
Front Endocrinol (Lausanne). 2022 Jun 10;13:867073. doi: 10.3389/fendo.2022.867073. eCollection 2022.
PMID:35757411
Revisiting Classical 3β-hydroxysteroid Dehydrogenase 2 Deficiency: Lessons from 31 Pediatric Cases.
Guran T, Kara C, Yildiz M, Bitkin EC, Haklar G, Lin JC, Keskin M, Barnard L, Anik A, Catli G, Guven A, Kirel B, Tutunculer F, Onal H, Turan S, Akcay T, Atay Z, Yilmaz GC, Mamadova J, Akbarzade A, Sirikci O, Storbeck KH, Baris T, Chung BC, Bereket A.
J Clin Endocrinol Metab. 2020 Mar 1;105(3):dgaa022. doi: 10.1210/clinem/dgaa022.
PMID:31950145
[3Beta-hydroxysteroid dehydrogenase deficiency].
Goto Y, Yanase T.
Nihon Rinsho. 2006 May 28;Suppl 1:685-8.
PMID:16776248
The uncommon forms of congenital adrenal hyperplasia.
Auchus RJ.
Curr Opin Endocrinol Diabetes Obes. 2022 Jun 1;29(3):263-270. doi: 10.1097/MED.0000000000000727.
PMID:35621178
Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit.
Donadille B, Houang M, Netchine I, Siffroi JP, Christin-Maitre S.
Endocr Connect. 2018 Mar;7(3):395-402. doi: 10.1530/EC-17-0306. Epub 2018 Feb 2.
PMID:29420188
Severe Salt-Losing 3beta-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes.
Benkert AR, Young M, Robinson D, Hendrickson C, Lee PA, Strauss KA.
J Clin Endocrinol Metab. 2015 Aug;100(8):E1105-15. doi: 10.1210/jc.2015-2098. Epub 2015 Jun 16.
PMID:26079780
Human 3beta-hydroxysteroid dehydrogenase deficiency seems to affect fertility but may not harbor a tumor risk: lesson from an experiment of nature.
Burckhardt MA, Udhane SS, Marti N, Schnyder I, Tapia C, Nielsen JE, Mullis PE, Rajpert-De Meyts E, Flück CE.
Eur J Endocrinol. 2015 Nov;173(5):K1-K12. doi: 10.1530/EJE-15-0599. Epub 2015 Aug 19.
PMID:26290012
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