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| 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 | Extended-spectrum beta-lactamases in Ireland, including a novel enzyme, TEM-102 显示文摘 | Dearbhaile M Colette OH Maura G | 2003 | Antimicrob Agents Chemother2003，47，8： | 1 |
| 3 | 5-Hydroxytryptamine3 receptors sited on cholinergic axon terminals of human cortex mediate inhibition of acetyleholine release显示文摘 | Maura G Andrioli GC Cavazzani P | 1992 | J Neurochem1992，58，6： | 1 |
| 4 | A subtype of GABAB receptor regulates cholinergic response in the guinea-pig ileum显示文摘 | Scarrone S Maura G | 2000 | J Pharmacol Exp Ther2000，293，1： | 1 |
| 5 | Freshwater Biolgy显示文摘 | Maura A G & Eville G | 1985 | 15:227 - 2481985，15，： | 1 |
| 6 | Information handling by the brain : proposal of a new 'paradigm' involving the roamer type of volume transmission and the tunneling nanotube type of wiring transmission显示文摘 | Agnati LF Guidolin D Maura G | 2014 | J Neural Transm2014，121，12： | 1 |
| 7 | Comparison of the Short-Term Risk of Bleeding and Arterial Thromboembolic Events in Nonvalvular Atrial Fibrillation Patients Newly Treated With Dabigatran or Rivaxoxa- ban Versus Vitamin K Antagonists:A French Nationwide Propensity- Matched Cohort Study显示文摘 | Maura G Blotiere PO Bouillon K | 2015 | Circulation2015，132，13： | 1 |
| 8 | Extended-spectrum β-lactamases in Ireland, including a novel enzyme, TEM-102显示文摘 | Dearbhaile M Colette OH Maura G | 2003 | Antimicrob Agents Chemother2003，47，： | 1 |
| 9 | Low dose alemtuzumab in patients with fludarabine-refractory chronic lymphocytic leu- kemia显示文摘 | Gritti G Reda G Maura F etal | 2012 | Leuk Lymphoma2012，53，： | 1 |
| 10 | Serotonin 5-HT1D and 5-HT1A recep tots respectively mediate inhibition ot' glutamate release and in hibition of cyclic GMP production in rat cerebellum in vitro显示文摘 | Maura G Raiteri M | 1996 | J Neurochem1996，66，： | 1 |
| 11 | Benzo pyrene diolepoxide (BPDE)-DNA adduct levels in leukocytes of smokers in relation to polymorphism of CYP1A1, GSTM1, GSTP1, GSTY1, and mEH 显示文摘 | Maura L Cristina L Francesco G | 2004 | Cancer Epidemiol Biomarkers Prev2004，13，： | 1 |
| 12 | Reverse Engineering and Res- tyling of Aesthetic Products Based on Sketches In terpretation显示文摘 | Maura M Michele G | 2009 | Research in Engineering Design2009，20，2： | 1 |
| 13 | Hepa-rin: a potent inhibitor of hepcidin expression in vitro andin vivo显示文摘 | MAURA P DOMENICO G NATASCIA C | 2011 | Blood2011，117，： | 1 |
| 14 | CAD-based environment to bridge the gap between product design and tolerance control显示文摘 | MICHELE G FERRUCCIO M MAURA M | 2010 | Precision Engineering2010，34，1： | 1 |
| 15 | Molecular and biochemical biomarkers in environmental monitoring:A comparison of biotransformation an antioxidant defense systems in multiple tissues显示文摘 | Francesco R Maria E G Maura B | 2011 | Aquatic Toxicology2011，，105： | 1 |
| 16 | Quantitative Gene Expression Analysis Reveals Transition of Fetal Liver Progenitor Cells to Mature Hepatocytes after Transplantation in uPA/RAG-2 Mice显示文摘 | Tobias Cantz David M. Zuckerman Martin R. Burda Maura Dandri Bettina G?ricke Stefan Thalhammer Wolfgang M. Heckl Michael P. Manns J?rg Petersen Michael Ott | 2003 | The American Journal of Pathology2003，，1： | 1 |
| 17 | A subtype of the GABAB receptor regulates cholinergic twitch response in the guinea pig ileum显示文摘 | Marcoli M Scarrone S Maura G | 2000 | The Journal of Pharmacology and Experimental Therapeuties2000，293，1： | 1 |
| 18 | A subtype of GABAB receptor regulates cholinergic response in the guineapig ileum显示文摘 | Marcoli M Scarrone S Maura G | 2000 | Pharmacol Exp Ther2000，293，1： | 1 |
| 19 | A subtype of GABAB receptor regulates cholinergic esponse in the guinea-pig ileum显示文摘 | Marcoli M Scartone S Maura G | 2000 | Pharmacol Exp Ther2000，293，1： | 1 |
| 20 | Relation between bevacizumab dose intensity and high-grade glioma survival:a retrospective study in two large cohorts显示文摘Bevacizumab is one of the rare drugs that could improve high-grade glioma outcome after failure of chemoradiotherapy.However,to date,there is no biomarker predictive for efficacy of bevacizumab therapy in terms of survival improvement for patients with high- | Lorgis V Maura G Coppa G Hassani K Taillandier L Chauffert B Apetoh L Ladoire S Ghiringhelli F | 2012 | 中国神经肿瘤杂志2012，10，4： | 0 |
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