1. 夏强 中国 上海交通大学医学院 2023中国工程院院士 Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclero..
2. Emmanuel,Jacquemin 法国 UNIVERSITE PARIS SACLAY Failure of cholic acid therapy in a child with a bile acid synthesis defect and harboring plectin mu..
3. Peter I,Mackenzie 澳大利亚 Flinders University South Australia A Comprehensive Bioinformatic Analysis of RNA-seq Datasets Reveals a Differential and Variable Expre..
4. Emmanuel,Jacquemin 法国 UNIVERSITE PARIS SACLAY △4-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic ..
5. Emmanuel,Jacquemin 法国 UNIVERSITE PARIS SACLAY Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid thera..
6. Setchell, Kenneth D.R. 美国 University of Cincinnati College of Medicine Recurrent AKR1D1 c.580-13T>A Variant A Cause of D4-3-Oxosteroid-5b-Reductase Deficiency
7. 张欣欣 中国 上海交通大学医学院 博士生导师 Genetic testing of UGT1A1 in the diagnosis of Gilbert syndrome: The discovery of seven novel variant..
8. 宁琴 中国 华中科技大学 教授、主任医师 Compound heterozygous UGT1A1*28 and UGT1A1*6 or single homozygous UGT1A1*28 are major genotypes asso..
9. Leanne,Hodson 英国 University of Oxford The role of 5-reduction in physiology and metabolic disease: evidence from cellular, pre-clinical an..
10. Jeremy W,Tomlinson 英国 University of Oxford The role of 5-reduction in physiology and metabolic disease: evidence from cellular, pre-clinical an..
11. Setchell, Kenneth D.R. 美国 University of Cincinnati College of Medicine Delta 4-3-oxosteroid-5 beta-reductase deficiency: Responses to oral bile acid therapy and long-term ..
12. Setchell, Kenneth D.R. 美国 University of Cincinnati College of Medicine Infant cholestasis patient with a novel missense mutation in the AKR1D1 gene successfully treated by..
13. Frank,Lammert 德国 University of SAARLAND Phenotypic Spectrum and Diagnostic Pitfalls of ABCB4 Deficiency Depending On Age of Onset
14. Chantal,Housset 法国 Sorbonne University Comparison of in silico prediction and experimental assessment of ABCB4 variants identified in patie..
15. Trevor M,Penning 美国 University of Pennsylvania In-Depth Dissection of the P133R Mutation in Steroid 5 beta-Reductase (AKR1D1): A Molecular Basis of..
16. Fernando,Scaglia 美国 Baylor College of Medicine Adult liver disorders caused by inborn errors of metabolism: Review and update
17. Chantal,Housset 法国 Sorbonne University ABCB4: Insights from pathobiology into therapy
18. Trevor M,Penning 美国 University of Pennsylvania 5 beta-Reduced steroids and human Delta(4)-3-ketosteroid 5 beta-reductase[AKR1D1]
19. Rizner, Tea Lanisnik 斯洛文尼亚 University of Ljubljana Role of aldo-keto reductase family 1 (AKR1) enzymes in human steroid metabolism
20. Trevor M,Penning 美国 University of Pennsylvania Role of aldo-keto reductase family 1 (AKR1) enzymes in human steroid metabolism