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名词信息
中 文 名:
20,22-碳链酶缺陷症
英 文 名:
20,22-desmolase deficiency
中文又称:
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
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
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
Congenital lipoid adrenal hyperplasia.
Kim CJ.
Ann Pediatr Endocrinol Metab. 2014 Dec;19(4):179-83. doi: 10.6065/apem.2014.19.4.179. Epub 2014 Dec 31.
PMID:25654062
Consanguinity and disorders of sex development.
Bashamboo A, McElreavey K.
Hum Hered. 2014;77(1-4):108-17. doi: 10.1159/000360763. Epub 2014 Jul 29.
PMID:25060274
Study of cholesterol side-chain cleavage (20,22 desmolase) deficiency causing congenital lipoid adrenal hyperplasia using bovine-sequence P450scc oligodeoxyribonucleotide probes.
Matteson KJ, Chung BC, Urdea MS, Miller WL.
Endocrinology. 1986 Apr;118(4):1296-305. doi: 10.1210/endo-118-4-1296.
PMID:2419119
Steroidogenesis of the testis -- new genes and pathways.
Flück CE, Pandey AV.
Ann Endocrinol (Paris). 2014 May;75(2):40-7. doi: 10.1016/j.ando.2014.03.002. Epub 2014 Apr 29.
PMID:24793988
Disorders of Sex Development of Adrenal Origin.
Finkielstain GP, Vieites A, Bergadá I, Rey RA.
Front Endocrinol (Lausanne). 2021 Dec 20;12:770782. doi: 10.3389/fendo.2021.770782. eCollection 2021.
PMID:34987475
Clinical spectrum of human STAR variants and their genotype-phenotype correlation.
Altinkilic EM, Augsburger P, Pandey AV, Flück CE.
J Endocrinol. 2024 Jul 18;262(3):e240078. doi: 10.1530/JOE-24-0078. Print 2024 Sep 1.
PMID:38913505
Toward the NMR structure of StAR.
Barbar E, Lehoux JG, Lavigne P.
Mol Cell Endocrinol. 2009 Mar 5;300(1-2):89-93. doi: 10.1016/j.mce.2008.12.007. Epub 2008 Dec 24.
PMID:19138724
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