hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ; Homo sapiens






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1 11067870 The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis. J Clin Invest 2000 Nov 4
2 12679481 Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease. J Clin Endocrinol Metab 2003 Apr 5
3 22999953 Oxysterol gradient generation by lymphoid stromal cells guides activated B cell movement during humoral responses. Immunity 2012 Sep 21 3
4 24954360 Synthesis of atypical bile acids for use as investigative tools for the genetic defect of 3β-hydroxy-Δ(5)-C27-steroid oxidoreductase deficiency. J Steroid Biochem Mol Biol 2014 Oct 13
5 25931455 Tandem mass spectrometric determination of atypical 3β-hydroxy-Δ5-bile acids in patients with 3β-hydroxy-Δ5-C27-steroid oxidoreductase deficiency: application to diagnosis and monitoring of bile acid therapeutic response. Clin Chem 2015 Jul 2
6 28727657 Cholic Acid to Treat HSD3B7 and AKR1D1 Deficiencies. J Pediatr Gastroenterol Nutr 2017 Dec 1
7 29081931 Atypical clinical presentation and successful treatment with oral cholic acid of a child with defective bile acid synthesis due to a novel mutation in the <i>HSD3B7</i> gene. Pediatr Rep 2017 Oct 6 2
8 29670816 The association between <i>HSD3B7</i> gene variant and Parkinson's disease in ethnic Chinese. Brain Behav 2018 Apr 1
9 30250332 [Colestasis por deficiencia de 3b-Δ5-C27-hidroxiesteroide deshidrogenasa en un paciente con alteración en la síntesis de ácidos biliares]. Bol Med Hosp Infant Mex 2018 1
10 34627351 Genetic spectrum and clinical characteristics of 3β-hydroxy-Δ<sup>5</sup>-C<sub>27</sub>-steroid oxidoreductase (HSD3B7) deficiency in China. Orphanet J Rare Dis 2021 Oct 9 2