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20,22-desmolase deficiency相关文献:
[20,22-Desmolase deficiency].
Nishizawa Y, Matsumoto K.
Ryoikibetsu Shokogun Shirizu. 1993;(1):498-502.
PMID:7757653
[20,22 Desmolase deficiency].
Fujieda K.
Nihon Rinsho. 2006 May 28;Suppl 1:696-8.
PMID:16776251
Rare forms of congenital adrenal hyperplasia.
Gurpinar Tosun B, Guran T.
Clin Endocrinol (Oxf). 2024 Oct;101(4):371-385. doi: 10.1111/cen.15009. Epub 2023 Dec 21.
PMID:38126084
Male pseudohermaphroditism consistent with 17,20-desmolase deficiency.
Goebelsmann U, Zachmann M, Davajan V, Israel R, Mestman JH, Mishell DR.
Gynecol Invest. 1976;7(3):138-56. doi: 10.1159/000301330.
PMID:184011
Congenital Adrenal Hyperplasias Presenting in the Newborn and Young Infant.
Balsamo A, Baronio F, Ortolano R, Menabo S, Baldazzi L, Di Natale V, Vissani S, Cassio A.
Front Pediatr. 2020 Dec 22;8:593315. doi: 10.3389/fped.2020.593315. eCollection 2020.
PMID:33415088
MECHANISMS IN ENDOCRINOLOGY: Rare defects in adrenal steroidogenesis.
Miller WL.
Eur J Endocrinol. 2018 Sep;179(3):R125-R141. doi: 10.1530/EJE-18-0279. Epub 2018 Jun 7.
PMID:29880708
Intramitochondrial cholesterol transfer.
Stocco DM.
Biochim Biophys Acta. 2000 Jun 26;1486(1):184-97. doi: 10.1016/s1388-1981(00)00056-1.
PMID:10856721
Why nobody has P450scc (20,22 desmoslase) deficiency.
Miller WL.
J Clin Endocrinol Metab. 1998 Apr;83(4):1399-400. doi: 10.1210/jcem.83.4.4734-7.
PMID:9543177
Cholesterol Side-Chain Cleavage Enzyme (SCC) Deficiency.
Katsumata N.
Clin Pediatr Endocrinol. 2007;16(3):63-8. doi: 10.1297/cpe.16.63. Epub 2007 Aug 8.
PMID:24790347
Genetic disorders of Vitamin D biosynthesis and degradation.
Miller WL.
J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):101-108. doi: 10.1016/j.jsbmb.2016.04.001. Epub 2016 Apr 6.
PMID:27060335
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