QQ客服 官方微博 反馈留言

浏览/检索结果: 共6条，第1-6条 帮助 已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择作者升序作者降序题名升序题名降序发表日期升序发表日期降序提交时间升序提交时间降序 Delta 4-3-oxosteroid-5 beta-reductase deficiency: Responses to oral bile acid therapy and long-term outcomes 期刊论文 WORLD JOURNAL OF GASTROENTEROLOGY, 2019, 卷号: 25, 期号: 7 作者:  Zhang, Mei-Hong;  Setchell, Kenneth D. R.;  Zhao, Jing;  Gong, Jing-Yu;  Lu, Yi 收藏  |  浏览/下载：13/0  |  提交时间：2019/12/05 Delta 4-3-oxosteroid-5 beta-reductase deficiency  Mass spectrometry  Bile acid synthesis disorder  Chenodeoxycholic acid  Ursodeoxycholic acid   Infant cholestasis patient with a novel missense mutation in the AKR1D1 gene successfully treated by early adequate supplementation with chenodeoxycholic acid: A case report and review of the literature 期刊论文 WORLD JOURNAL OF GASTROENTEROLOGY, 2018, 卷号: 24, 期号: 35 作者:  Wang, Hui-Hui;  Wen, Fei-Qiu;  Dai, Dong-Ling;  Wang, Jian-She;  Zhao, Jing 收藏  |  浏览/下载：10/0  |  提交时间：2019/12/05 Aldo-keto reductase family 1 member D1  Cholestasis  Congenital bile acid synthesis defect  Gene mutation   Progranulin associates with hexosaminidase A and ameliorates GM2 ganglioside accumulation and lysosomal storage in Tay-Sachs disease 期刊论文 Journal of Molecular Medicine, 2018, 卷号: Vol.96 No.12, 页码: 1359-1373 作者:  Yuehong Chen;  Jinlong Jian;  Aubryanna Hettinghouse;  Xueheng Zhao;  Kenneth D. R. Setchell 收藏  |  浏览/下载：4/0  |  提交时间：2019/02/25 Severe Neonatal Cholestasis in Cerebrotendinous Xanthomatosis: Genetics, Immunostaining, Mass Spectrometry 期刊论文 JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 2017, 卷号: 65, 期号: 5 作者:  Gong, Jing-Yu;  Setchell, Kenneth D. R.;  Zhao, Jing;  Zhang, Wujuan;  Wolfe, Brian 收藏  |  浏览/下载：5/0  |  提交时间：2019/12/05 bile acid synthesis defect  bile alcohol  CYP27A1  mass spectrometry  next-generation sequencing   Tandem Mass Spectrometric Determination of Atypical 3 beta-Hydroxy-Delta(5)-Bile Acids in Patients with 3 beta-Hydroxy-Delta(5)-C-27-Steroid Oxidoreductase Deficiency: Application to Diagnosis and Monitoring of Bile Acid Therapeutic Response 期刊论文 CLINICAL CHEMISTRY, 2015, 卷号: 61, 期号: 7 作者:  Zhang, Wujuan;  Jha, Pinky;  Wolfe, Brian;  Gioiello, Antimo;  Pellicciari, Roberto 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/19 Primary Delta 4-3-oxosteroid 5 beta-reductase deficiency: Two cases in China 期刊论文 WORLD JOURNAL OF GASTROENTEROLOGY, 2012, 卷号: 18, 期号: 47 作者:  Zhao, Jing;  Fang, Ling-Juan;  Setchell, Kenneth D. R.;  Chen, Rui;  Li, Li-Ting 收藏  |  浏览/下载：1/0  |  提交时间：2019/12/19 Primary Delta 4-3-oxosteroid 5 beta-reductase gene  Cholestasis  Bile acid therapy  Aldo-keto reductase 1D1  Bile acid synthetic defects