1. 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..
2. Emmanuel,Jacquemin 法国 UNIVERSITE PARIS SACLAY △4-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic ..
3. Alex,Odermatt 瑞士 University of Basel Assessment of the inhibitory potential of anabolic steroids towards human AKR1D1 by computational me..
4. 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
5. Douglas M,Heuman 美国 Virginia Commonwealth University Coffee modulates insulin-hepatocyte nuclear factor-4 alpha-Cyp7b1 pathway and reduces oxysterol-driv..
6. Raal, Frederick Johan 南非 University of the Witwatersrand Faculty of Health Sciences Cerebrotendinous xanthomatosis without neurological involvement
7. Niels P,Riksen 荷兰 Radboud University Nijmegen Cerebrotendinous xanthomatosis without neurological involvement
8. Ron A,Wevers 荷兰 Radboud University Nijmegen Cerebrotendinous xanthomatosis without neurological involvement
9. Avila, Matias A. 西班牙 University of Navarra Gene supplementation of CYP27A1 in the liver restores bile acid metabolism in a mouse model of cereb..
10. Marin, Jose J. G. 西班牙 University of Salamanca Gene supplementation of CYP27A1 in the liver restores bile acid metabolism in a mouse model of cereb..
11. Luetjohann, Dieter 德国 University of Hospital Bonn Dynamics of the enterohepatic circulation of bile acids in healthy humans
12. Pietro,Vajro 意大利 University of Salerno Diagnostic Approach to Acute Liver Failure in Children: A Position Paper by the SIGENP Liver Disease..
13. Lorenzo,D'Antiga 意大利 Hospital of Papa Giovanni XXIII Diagnostic Approach to Acute Liver Failure in Children: A Position Paper by the SIGENP Liver Disease..
14. Leanne,Hodson 英国 University of Oxford The role of 5-reduction in physiology and metabolic disease: evidence from cellular, pre-clinical an..
15. Jeremy W,Tomlinson 英国 University of Oxford The role of 5-reduction in physiology and metabolic disease: evidence from cellular, pre-clinical an..
16. 唐北沙 中国 中南大学 GPCards: An integrated database of genotype-phenotype correlations in human genetic diseases
17. Vaz, Frederic M. 荷兰 University of AMSTERDAM Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study us..
18. Michael H,Gelb 美国 University of Washington Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study us..
19. Ian D,Krantz 美国 University of Pennsylvania Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies an..
20. Nancy B,Spinner 美国 University of Pennsylvania Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies an..