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	题名	作者	年代	出处	被引量
1	Differential diagnosis in patients with suspected bile acid synthesis defects显示文摘AIM: To investigate the clinical presentations associated with bile acid synthesis defects and to describe identification of individual disorders and diagnostic pitfalls. METHODS: We describe semiquantitative determination of 16 urinary bile acid metabolites by electrospray ionization-tandem mass spectrometry. Sample preparation was performed by solid-phase extraction. The total analysis time was 2 min per sample. We determined bile acid metabolites in 363 patients with suspected defects in bile acid metabolism. RESULTS: Abnormal bile acid metabolites were found in 36 patients. Two patients had bile acid synthesis defects but presented with atypical presentations. In 2 other patients who were later shown to be affected by biliary atresia and cystic fibrosis the profile of bile acid metabolites was initially suggestive of a bile acid synthesis defect. Three adult patients suffered from cerebrotendinous xanthomatosis. Nineteen patients had peroxisomal disorders, and 10 patients had cholestatic hepatopathy of other cause. CONCLUSION: Screening for urinary cholanoids should be done in every infant with cholestatic hepatopathy as well as in children with progressive neurological disease to provide specific therapy.	Dorothea Haas Hongying Gan-Schreier Claus-Dieter Langhans Tilman Rohrer Guido Engelmann Maura Heverin David W Russell Peter T Clayton Georg F Hoffmann Jürgen G Okun	2012	World Journal of Gastroenterology2012，18，10：	2
2	Pre-term twin and triplet pregnancies are at increased risk for the de-velopment of cystic periventricular leukomalacia显示文摘	Resch B Resch E Freidl T Maurer U Haas J Müller W	2013	Eur J Paedi-atr Neurol2013，17，2：	1
3	The major genetic determinants of HIV-1control affect HLA class I peptide presentation显示文摘	International HIV Controllers Study Pereyra F Jia X McLaren P J Telenti A de Bakker P I Walker B D Ripke S Brumme C J Pulit S L Carrington M Kadie C M Carlson J M Heckerman D Graham R R Plenge R M Deeks S G Gianniny L Crawford G Sullivan J Gonzalez E Davies L Camargo A Moore JM Beattie N Gupta S Crenshaw A Burtt N P Guiducci C Gupta N Gao X Qi Y Yuki Y Piechocka-Trocha A Cutrell E Rosenberg R Moss K L Lemay P O'Leary J Schaefer T Verma P Toth I Block B Baker B Rothchild A Lian J Proudfoot J Alvino D M Vine S Addo M M Allen T M Altfeld M Henn M R Le Gall S Streeck H Haas D W Kuritzkes D R Robbins G K Shafer R W Gulick R M Shikuma C M Haubrich R Riddler S Sax P E Daar E S Ribaudo H J Agan B Agarwal S Ahern R L Allen B L Altidor S Altschuler E L Ambardar S Anastos K Anderson B Anderson V Andrady U Antoniskis D Bangsberg D Barbaro D Barrie W Bartczak J Barton S Basden P Basgoz N Bazner S Bellos N C Benson A M Berger J Bernard N F Bernard A M Birch C Bodner S J Bolan R K Boudreaux E T Bradley M Braun J F Brndjar J E Brown S J Brown K Brown S T Burack J Bush LM Cafaro V Campbell O Campbell J Carlson R H Carmichael J K Casey K K Cavacuiti C Celestin G Chambers S T Chez N Chirch L M Cimoch P J Cohen D Cohn LE Conway B Cooper D A Cornelson B Cox D T Cristofano M V Cuchural G Jr Czartoski J L Dahman J M Daly J S Davis B T Davis K Davod S M DeJesus E Dietz C A Dunham E Dunn M E Ellerin T B Eron J J Fangman J J Farel C E Ferlazzo H Fidler S Fleenor-Ford A Frankel R Freedberg K A French N K Fuchs JD Fuller J D Gaberman J Gallant J E Gandhi R T Garcia E Garmon D Gathe J C Jr Gaultier C R Gebre W Gilman F D Gilson I Goepfert P A Gottlieb M S Goulston C Groger R K Gurley T D Haber S Hardwicke R Hardy W D Harrigan P R Hawkins T N Heath S Hecht F M Henry W K Hladek M Hoffman R P Horton J M Hsu R K Huhn G D Hunt P Hupert M J Illeman M L Jaeger H Jellinger R M John M Johnson J A Johnson K L Johnson H Johnson K Joly J Jordan W C Kauffman C A Khanlou H Killian R K Kim A Y Kim D D Kinder C A Kirchner J T Kogelman L Kojic E M Korthuis P T Kurisu W Kwon D S LaMar M Lampiris H Lanzafame M Lederman M M Lee D M Lee J M Lee M J Lee E T Lemoine J Levy J A Llibre J M Liguori M A Little S J Liu A Y Lopez A J Loutfy M R Loy D Mohammed D Y Man A Mansour M K Marconi V C Markowitz M Marques R Martin J N Martin H L Jr Mayer K H McElrath M J McGhee T A McGovern B H McGowan K McIntyre D Mcleod GX Menezes P Mesa G Metroka CE Meyer-Olson D Miller A O Montgomery K Mounzer K C Nagami E H Nagin I Nahass R G Nelson M O Nielsen C Norene D L O'Connor D H Ojikutu B O Okulicz J Oladehin O O Oldfield E C Olender S A Ostrowski M Owen WF Jr Pae E Parsonnet J Pavlatos A M Perlmutter A M Pierce M N Pincus J M Pisani L Price L J Proia L Prokesch R C Pujet H C Ramgopal M Rathod A Rausch M Ravishankar J Rhame F S Richards C S Richman D D Rodes B Rodriguez M Rose R C 3rd Rosenberg E S Rosenthal D Ross P E Rubin D S Rumbaugh E Saenz L Salvaggio M R Sanchez WC Sanjana V M Santiago S Schmidt W Schuitemaker H Sestak P M Shalit P Shay W Shirvani V N Silebi V I Sizemore J M Jr Skolnik P R Sokol-Anderson M Sosman J M Stabile P Stapleton J T Starrett S Stein F Stellbrink H J Sterman FL Stone V E Stone D R Tambussi G Taplitz R A Tedaldi E M Telenti A Theisen W Torres R Tosiello L Tremblay C Tribble M A Trinh P D Tsao A Ueda P Vaccaro A Valadas E Vanig T J Vecino I Vega V M Veikley W Wade B H Walworth C Wanidworanun C Ward D J Warner D A Weber R D Webster D Weis S Wheeler D A White D J Wilkins E Winston A Wlodaver C G van't Wout A Wright D P Yang O O Yurdin D L Zabukovic B W Zachary K C Zeeman B Zhao M	2010	Science2010，330，6010：	1
4	GCN5-mediated transcriptional control of the metabolic coactivator PGC-1β through lysine acetylation 显示文摘	Kelly T J Lerin C Haas W	2009	J Biol Chem2009，284，30：	1
5	The draft genome of the transgenic tropical fruit tree papaya ( Carica pap aya Linnaeus ) 显示文摘	MING R HOU S B FENG Y YU Q DIONNE-LAPORTE A SAW J H SENIN P WANG W LY B V LEWIS K L T SALZBERG S L FENG L GONES M R SKELTON R L MURRAYJ E CHEN C QIAN W SHEN J DU P EUSTICE M TONG E TANG H LYONS E PAULL R E MICHAEL T P WALL K RICE D W ALBERT H WANG M L ZHU Y J SCHATZ M NAGARAJAN N ACOB R A GUAN P BLAS A WAI C M ACKERMAN C M REN Y LIU C WANG J M WANG J P NA J SHAKIROV E V HAAS B THIMMAPURAM J NELSON D WANG X BOWERS J E GSCHWEND A R DELCHER A L SINGH R SUZUKI J Y TRIPATHI S NEUPANE K WEI H IRIKURA B PAIDI M JIANG N ZHANG W PRESTING G WINDSOR A NAVAJAS-PEREZ R TORRES M J FELTUS A PORTER B LI Y BURROUGHS A M LUO M C LIU L CHRISTOPHER D A MOUNT S M MOORE P H SUGIMURA T JIANG J SCHULER M A FRIEDMAN V MITCHELL-OLDS T SHIPPEN D E PAMPHILIS C W PALMER J D FREELING M PATERSON A H GONSALVES D WANG L ALAM M	2008	Nature2008，452，：	1
6	The immunoregulatory role of CD244in chronic hepatitis B infection and its inhibitory potential on virus-specific CD8+T-cell function显示文摘	Raziorrouh B Schraut W Gerlach T Nowack D Grüner N H Ulsenheimer A Zachoval R Wchtler M Spannagl M Haas J Diepolder H M Jung M C	2010	Hepatology2010，52，6：	1
7	Nutrient control of glucose homeostasis through a complex of PGC-1alpha and SIRT1显示文摘	RODGERS J T LERIN C HAAS W	2005	Nature2005，434，7029：	1
8	The complete sequence of the human beta-myosin heavy chain gene and a comparative analysis of its product显示文摘	JAENICKE T DIEDERICH K W HAAS W	1990	Genomics1990，8，2：	1
9	Synthesis and characterization of copper zinc tin chalcogenide nanoparticles: Influence of reactants on the chemical composition 显示文摘	RATH T HAAS W PEIN A	2012	Sol Energy Mater Sol Cells2012，101，：	1
10	Human genomic association studies: a primer for the infectious diseases specialist 显示文摘	MOTSINGER A A HAAS D W HULGAN T	2007	J Infect Dis2007，195，12：	1
11	Investigation of CuzZn- SnS4 formation from metal salts and thioacetamide显示文摘	FISCHEREDER A RATH T HAAS W	2010	Chemistry of Materials2010，22，11：	1
12	Nutrient control of glucose homeostasis through a complex of PGC-lalpha and Sirtl 显示文摘	Rodgers J T Lerin C Haas W	2005	Nature2005，434，7029：	1
13	Electrospinning and stabilization of fully hydrolyzed poly( vinyl alcohol) fibers显示文摘	YAO L HAAS T W GUISEPPI E A ct al	2003	Chemistry of Materials2003，15，9：	1
14	Endogenous vasopressin and copeptin response in multiple trauma patients显示文摘	Westermann I Dunser M W Haas T		0，，06：	1
15	Nutrient control of glucose homeostasis through a complex of PGC-lalpha and SIRT1 显示文摘	RODGERS J T LERIN C HAAS W	2005	Nature2005，434，7029：	1
16	Hemostatic changes after crystalloid or colloid fluid administration during major orthopedic surgery :the role of fibrinogen administration显示文摘	Mittermayr M Streif W Haas T	2007	Anesth Analg2007，105，4：	1
17	The draft genome of the transgenic tropical fruit tree papaya (Carica papaya Linnaeus ) 显示文摘	MING R HOU S B FENG Y YU Q Y DIONNE-LAPORTE A SAW J H SENIN P WANG W LY B V LEWIS K L T SALZBERG S L FENG L JONES M R SKELTON R L MURRAY J E CHEN C X QIAN W B SHEN J G DU P EUSTICE M TONG E TANG H B LYONS E PAULL R E MICHAEL T P WALL K RICE D W AL- BERT H WANG M L ZHU Y J SCHATZ M NAGARAJAN N A- COB R A GUAN P Z BLAS A WAI C M ACKERMAN C M REN Y LIU C WANG J M WANG J P NA J K SHAKIROV E V HAAS B THIMMAPURAM J NELSON D WANG X Y BOWERS J E GSCHWEND A R DELCHER A L SINGH R SUZUKI J Y TRI- PATHI S NEUPANE K WEI H R IRIKURA B PAIDI M JIANG N ZHANG W L PRESTING G WINDSOR A NAVAJAS-P?REZ R TORRES M J FELTUS F A PORTER B LI Y J BURROUGHS A M LUO M C LIU L CHRISTOPHER D A MOUNT S M MOORE P H SUGIMURA T JIANG J M SCHULER M A FRIEDMAN V MITCHELL-OLDS T SHIPPEN D E DEPAMPHILIS C W PALMER J D FREELING M PATERSON A H GONSALVES D WANG L ALAM M	2008	Nature2008，452，7190：	1
18	GCN5-mediated transcriptional control of the metabolic coactivator PGC-lbeta through lysine acety- lation 显示文摘	Kelly T J Lerin C Haas W	2009	The Journal of biological chemistry2009，284，19：	1
19	Hemostatic changes after crystalloid or colloid fluid administration during major orthopedic surgery: the role of fibrinogen administration 显示文摘	Mittermayr M Streif W Haas T	2007	Anesth Analg2007，105，4：	1
20	Nutrient control of glucose homeostasis through a complex of PGC-1 alpha and SIRTI 显示文摘	Rodgers J T Lerin C Haas W	2005	Nature2005，434，：	1

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