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27篇 您的检索式：作者名="CALDOVIC"

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	题名	作者	年代	出处	被引量
1	Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update显示文摘Ornithine transcarbamylase(OTC) deficiency is an X-linked trait that accounts for nearly half of all inherited disorders of the urea cycle.OTC is one of the enzymes common to both the urea cycle and the bacterial arginine biosynthesis pathway; however, the role of OTC has changed over evolution. For animals with a urea cycle, defects in OTC can trigger hyperammonemic episodes that can lead to brain damage and death. This is the fifth mutation update for human OTC with previous updates reported in 1993, 1995, 2002, and 2006. In the2006 update, 341 mutations were reported. This current update contains 417 disease-causing mutations, and also is the first report of this series to incorporate information about natural variation of the OTC gene in the general population through examination of publicly available genomic data and examination of phenotype/genotype correlations from patients participating in the Urea Cycle Disorders Consortium Longitudinal Study and the first to evaluate the suitability of systematic computational approaches to predict severity of disease associated with different types of OTC mutations.	Ljubica Caldovic Iman Abdikarim Sahas Narain Mendel Tuchman Hiroki Morizono	2015	Journal of Genetics and Genomics2015，42，5：	19
2	Mammalian N-acetylglutamate synthase显示文摘	Morizono H Caldovic L Shi D	2004	Mol Genet Metab2004，811，：	1
3	N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic academia as measured by isotopic incorporation and blood biomarkers显示文摘	TUCHMAN M CALDOVIC L DAIKHIN Y	2008	Pediat Res2008，64，2：	1
4	Position-independent expression of transgenes in zebrafish 显示文摘	CALDOVIC L AGALLIU D HACKETT P B	1999	Transgenic Res1999，8，：	1
5	Mechanism of allosteric inhibition of N-acetyl-L-glutamate synthase by L-arginine 显示文摘	Min L Jin Z Caldovic L	2009	Journal of Biological Chemistry2009，284，8：	1
6	N-acetylglutamate and its changing role through evolution显示文摘	Caldovic L Tuchman M	2003	Biochem J2003，372，：	1
7	N-acetylglutamate and tis changing role through evolution显示文摘	Caldovic L Tuchraan M	2003	Biochem J2003，372，：	1
8	N-acetylglutamate and its changing role through evolution 显示文摘	Caldovic L Tuchman M	2003	Biochem J2003，372，：	1
9	N-acetylglutamateand its changing role through evolution显示文摘	CALDOVIC L TUCHMAN M	2003	BiochemJ2003，372，：	1
10	Mammalian N-acetylglutamate synthase显示文摘	Morizono H Caldovic L Shi D S et o/	2004	Molecular Genetics and Metabolism2004，81，：	1
11	N-carbamylglutamate marked- ly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers显示文摘	Tuchman M Caldovic L Dalkhin Y	2008	Pedi- atric Research2008，64，2：	1
12	Mammalian N-acetylgluta- mate synthase显示文摘	Morizono H Caldovic L Shi D	2004	Molecular Genetics and Metabolism2004，81，：	1
13	Mechanism of allosteric inhibition of N-acetyl-L-glutamate synthase by L-arglnine显示文摘	Min L Jin Z Caldovic L		0，，08：	1
14	Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia 显示文摘	Caldovic C Morizono H Panglao M G	2003	Hum Genet2003，112，：	1
15	N-Carbamyl glutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers 显示文摘	Tuchman M Caldovic M Daikhin Y	2008	Pediatr Research2008，64，2：	1
16	Mammalian N-acetylglutamate synthase显示文摘	Morizono H Caldovic L Shi D	2004	Molecular Genetics and Metabolism2004，811，：	1
17	N-acetylglutamate and its changing role through evolution显示文摘	Caldovic L Tuchman M	2003	Biochemistry2003，372，：	1
18	Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transearbamylase gene as a model system显示文摘	Dobrowolski SF Ellingson CE Caldovic L	2007	Hum Mutat2007，28，11：	1
19	Restoration of ure- agenesis in N-acetylglutamate synthase deficiency by N-car bamylglutamate显示文摘	Caldovic L Morizono H Daikhin Y	2004	J Pediatr2004，145，4：	1
20	Tuchman, Identification, Cloning and Expression of the Mouse N-acetylglutamate Synthase Gene 显示文摘	CALDOVIC L MORIZONO H YU X	2002	Biochem J2002，364，36：	1

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