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 |