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	题名	作者	年代	出处	被引量
1	Primary 4-3-oxosteroid 5β-reductase deficiency:Two cases in China显示文摘Aldo-keto reductase 1D1(AKR1D1) deficiency,a rare but life-threatening form of bile acid deficiency,has not been previously described in China.Here,we describe the first two primary 4-3-oxosteroid 5β-reductase deficiency patients in China's Mainland diagnosed by fast atom bombardment-mass spectroscopy of urinary bile acids and confirmed by genetic analysis.A high proportion of atypical 3-oxo-4-bile acids in the urine indicated a deficiency in 4-3-oxosteroid 5β-reductase.All of the coding exons and adjacent intronic sequence of the AKR1D1 gene were sequenced using peripheral lymphocyte genomic DNA of two patients and one of the patient's parents.One patient exhibited compound heterozygous mutations:c.396C>A and c.722A>T,while the other was heterozygous for the mutation c.797G>A.Based on these mutations,a diagnosis of primary 4-3-oxosteroid 5β-reductase deficiency could be confirmed.With ursodeoxycholic acid treatment and fat-soluble vitamin supplements,liver function tests normalized rapidly,and the degree of hepatomegaly was markedly reduced in both patients.	Jing Zhao Ling-Juan Fang Kenneth DR Setchell Rui Chen Li-Ting Li Jian-She Wang	2012	World Journal of Gastroenterology2012，18，47：	9
2	Crucial role of the sarcoplasmic reticulum in the developmental regulation of Ca2+ transients and contraction in cardiomyocytes derived from embryonic stem cells显示文摘	Fu JD Li J Tweedie D Yu HM Chen L Wang R Riordon DR Brugh SA Wang SQ Boheler KR Yang HT	2006	中国生物学文摘2006，20，7：	9
3	Antibody detection and sequence analysis of sporadic HEV in Xiamen region显示文摘	Huang RT Li XY Xia XB Yuan XT Liu MX Li DR	1999	World Journal of Gastroenterology1999，5，3：	6
4	A perspective on paper - based mi- crofluidics : Current status fihd future trends 显示文摘	Li X Ballerini DR Shen W	2012	Biomierofiuidies2012，6，11：	1
5	Granzyme B and perforin are important for regulatory T cell-mediated suppression of tumor clearance 显示文摘	Cao X Cai SF Fehniger TA Song J Collins LI Piwnica-Worms DR	2007	Immunity2007，27，63：	1
6	Xenobiotic- induced apoptosis:significance and potential application as a general biomarker of response 显示文摘	Sweet LI Passino-Reader DR Meier PG	1999	Biomarkers1999，4，4：	1
7	Simultaneous mapping of blood volume and endothelial permeability surface area product in gliomas using iterative analysis of first-pass dynamic contrast en- hanced MRI data显示文摘	Li KL Zhu XP Checkley DR	2003	Bait J Radio2003，76，901：	1
8	Mucosal immunization withpurified ClpP could elicit protective efficacy against pneumo-coccal pneumonia and sepsis in mice显示文摘	Cao J Chen TM Li DR	2008	Microbes Infect2008，10，1415：	1
9	Epstein-Barr virus myo- carditis as a cause of sudden death: two autopsy cases显示文摘	Ishikawa T Zhu BL Li DR	2005	Int J Legal Med2005，119，4：	1
10	Expression of human frataxin is regulated by transcription factors SRF and TFAP2显示文摘	Li K Singh A Crooks DR	2010	PLoS One2010，5，12：	1
11	Arsenic trioxidereduces the invasive and metastatic properties of nasopharyngeal carcinoma cells in vitro显示文摘	Du CW Wen BG Li DR	2006	Braz J Med Biol Res2006，39，5：	1
12	Characterizations of HCV NS5A replication complex inhibitors 显示文摘	O'Boyle li DR Sun JH Nower PT	2013	Virology2013，444，：	1
13	Detction of enterovirus capsid protein VP1 in myocardium from cases of myocarditis or dilated cardiomyopathy by immunohistochemistry: future evidence of enterovirus persistence in myocytes 显示文摘	Zhang H Li Y McClean DR	2004	Medical Microbiology & Immunology2004，193，23：	1
14	Calcitonin downregulated E-cadherin expression in rodent uterine epithelium during implantation显示文摘	Li Q Wang Jun Armant DR	2002	Journal of Biological Chemistry2002，277，46：	1
15	CD4+T lymphocytes mediatedprotection against invasive pneumococcal infection induced bymucosal immunization with ClpP and CbpA显示文摘	Cao J Gong Y Li DR	2009	Vaccine2009，27，21：	1
16	Nonsteroidal Antiinflammatory drug-induced fracture nonunion: an inhibition of angiogenesis显示文摘	Murnaghan M Li G Marsh DR	2006	J Bone Joint Surg Am2006，88，3：	1
17	Microphthalmia resulting from MSX2-induced apoptosis in the optic vesicle 显示文摘	WU LY LI M HINTON DR	2003	Invest Ophthal- mol Vis Sci2003，44，6：	1
18	Motor unit number estimate of distal and proximal muscles in Charcot-Marie-Tooth disease显示文摘	Lewis RA Li J Fuerst DR	2003	Muscle Nerve2003，28，2：	1
19	Expressing connexin 43 in breast cancer cells reduces their metastasis to lungs显示文摘	Li Z Zhou Z Welch DR	2008	Elin Exp Metastasis2008，25，8：	1
20	Hydrogen peroxide or heat shock induces resistance to hydrogen peroxide in Chinese hamster fibroblasts显示文摘	Spitz DR Dewey WC Li GC	1987	J Cell Physiol1987，131，3：	1

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