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Results 1 to 23 of 23

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Brain development and the ontogeny of developmental disabilitiesACOSTA, Maria; GALLO, Vittorio; BATSHAW, Mark L et al.Advances in pediatrics. 2002, Vol 49, pp 1-57, issn 0065-3101, 57 p.Article

Humoral immune response to recombinant adenovirus and adeno-associated virus after in utero administration of viral vectors in miceJEREBTSOVA, Marina; BATSHAW, Mark L; XUEHAI YE et al.Pediatric research. 2002, Vol 52, Num 1, pp 95-104, issn 0031-3998Article

Satellite Symposium on Advances in Inherited Urea Cycle DisordersBATSHAW, Mark L; BACHMANN, Claude; TUCHMAN, Mendel et al.Journal of inherited metabolic disease. 1998, Vol 21, issn 0141-8955, 159 p., SUP1Conference Proceedings

Alternative pathway therapy for urea cycle disorders : Twenty years laterBATSHAW, Mark L; MACARTHUR, Robert B; TUCHMAN, Mendel et al.The Journal of pediatrics. 2001, Vol 138, Num 1, pp S46-S55, issn 0022-3476, SUPConference Paper

Effects of hyperammonaemia on brain functionBUTTERWORTH, R. F.Journal of inherited metabolic disease. 1998, Vol 21, pp 6-20, issn 0141-8955, SUP1Conference Paper

Molecular genetic research into carbamoyl-phosphate synthase I: Molecular defects and linkage markersSUMMAR, M. L.Journal of inherited metabolic disease. 1998, Vol 21, pp 30-39, issn 0141-8955, SUP1Conference Paper

Prospects for prenatal gene therapy in disorders causing mental retardationXUEHAI YE; MITCHELL, Melanie; NEWMAN, Kurt et al.Mental retardation and developmental disabilities research reviews. 2001, Vol 7, Num 1, pp 65-72, issn 1080-4013Article

Genomics, Intellectual Disability, and AutismMEFFORD, Heather C; BATSHAW, Mark L; HOFFMAN, Eric P et al.The New England journal of medicine. 2012, Vol 366, Num 8, pp 733-743, issn 0028-4793, 11 p.Article

Epigenetics, Copy Number Variation, and Other Molecular Mechanisms Underlying Neurodevelopmental Disabilities: New Insights and Diagnostic ApproachesGROPMAN, Andrea L; BATSHAW, Mark L.Journal of developmental and behavioral pediatrics. 2010, Vol 31, Num 7, pp 582-591, issn 0196-206X, 10 p.Article

Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiencyGYATO, Kunsang; WRAY, J; HUANG, Z. J et al.Annals of neurology. 2004, Vol 55, Num 1, pp 80-86, issn 0364-5134, 7 p.Article

Neurodevelopmental outcome of long-term therapy of urea cycle disorders in JapanUCHINO, T; ENDO, F; MATSUDA, I et al.Journal of inherited metabolic disease. 1998, Vol 21, pp 151-159, issn 0141-8955, SUP1Conference Paper

Alternative pathway therapy for urea cycle disordersFEILLET, F; LEONARD, J. V.Journal of inherited metabolic disease. 1998, Vol 21, pp 101-111, issn 0141-8955, SUP1Conference Paper

In vivo measurement of ureagenesis with stable isotopesYUDKOFF, M; DAIKHIN, Y; YE, X et al.Journal of inherited metabolic disease. 1998, Vol 21, pp 21-29, issn 0141-8955, SUP1Conference Paper

Liver transplantation for the treatment of urea cycle disordersWHITINGTON, P. F; ALONSO, E. M; BOYLE, J. T et al.Journal of inherited metabolic disease. 1998, Vol 21, pp 112-118, issn 0141-8955, SUP1Conference Paper

Regulation of the urea cycle enzyme genes in nitric oxide synthesisMORI, M; GOTOH, T; NAGASAKI, A et al.Journal of inherited metabolic disease. 1998, Vol 21, pp 59-71, issn 0141-8955, SUP1Conference Paper

Differences in the human and mouse amino-terminal leader peptides of ornithine transcarbamylase affect mitochondrial import and efficacy of adenoviral vectorsXUEHAI YE; ZIMMER, Klaus-Peter; BROWN, Rebecca et al.Human gene therapy. 2001, Vol 12, Num 9, pp 1035-1046, issn 1043-0342Article

Evaluation of gene therapy for citrullinaemia using murine and bovine modelsPATEJUNAS, G; LEE, B; O'BRIEN, W. E et al.Journal of inherited metabolic disease. 1998, Vol 21, pp 138-150, issn 0141-8955, SUP1Conference Paper

The biochemical and molecular spectrum of ornithine transcarbamylase deficiencyTUCHMAN, M; MORIZONO, H; RAJAGOPAL, B. S et al.Journal of inherited metabolic disease. 1998, Vol 21, pp 40-58, issn 0141-8955, SUP1Conference Paper

Intellectual, Adaptive, and Behavioral Functioning in Children With Urea Cycle DisordersKRIVITZKY, Lauren; BABIKIAN, Talin; LEE, Hye-Seung et al.Pediatric research. 2009, Vol 66, Num 1, pp 96-101, issn 0031-3998, 6 p.Article

A pilot study of in vivo liver-directed gene transfer with an adenoviral vector in partial ornithine transcarbamylase deficiencyRAPER, Steven E; YUDKOFF, Marc; SIMOES, Heather et al.Human gene therapy. 2002, Vol 13, Num 1, pp 163-175, issn 1043-0342Article

Intragenic complementation at the argininosuccinate lyase locus : Reconstruction of the active siteHOWELL, P. L; TURNER, M. A; CHRISTODOULOU, J et al.Journal of inherited metabolic disease. 1998, Vol 21, pp 72-85, issn 0141-8955, SUP1Conference Paper

The human arginases and arginase deficiencyIYER, R; JENKINSON, C. P; VOCKLEY, J. G et al.Journal of inherited metabolic disease. 1998, Vol 21, pp 86-100, issn 0141-8955, SUP1Conference Paper

Developing adenoviral-mediated in vivo gene therapy for ornithine transcarbamylase deficiencyRAPER, S. E; WILSON, J. M; YUDKOFF, M et al.Journal of inherited metabolic disease. 1998, Vol 21, pp 119-137, issn 0141-8955, SUP1Conference Paper

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