Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine.
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M. Bamshad | C. Y. Ooi | J. Duley | B. Wilcken | K. Carpenter | J. Pinner | G. Marshall | M. Henman
[1] J. Duley,et al. Collection and determination of nucleotide metabolites in neonatal and adult saliva by high performance liquid chromatography with tandem mass spectrometry. , 2013, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.
[2] C. Mercer,et al. Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. , 2012, Human molecular genetics.
[3] T. Uchiumi,et al. Protein instability and functional defects caused by mutations of dihydro-orotate dehydrogenase in Miller syndrome patients , 2012, Bioscience reports.
[4] Jay Shendure,et al. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. , 2012, American journal of human genetics.
[5] D. Horn,et al. Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. , 2012, American journal of human genetics.
[6] P. Renshaw,et al. Open-label uridine for treatment of depressed adolescents with bipolar disorder. , 2011, Journal of child and adolescent psychopharmacology.
[7] P. Shannon,et al. Exome sequencing identifies the cause of a Mendelian disorder , 2009, Nature Genetics.
[8] H. Kitagawa,et al. Inhibiting the teratogenicity of the immunosuppressant leflunomide in mice by supplementation of exogenous uridine. , 2009, Toxicological sciences : an official journal of the Society of Toxicology.
[9] J. Rossant,et al. Spatial and temporal patterns of ERK signaling during mouse embryogenesis , 2003, Development.
[10] J. Wasmuth,et al. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome , 1996, Nature Genetics.
[11] S. Brusilow,et al. First report of management and outcome of pregnancies associated with hereditary orotic aciduria. , 1991, American journal of medical genetics.
[12] C. Jakobs,et al. A new case of dihydropyrimidine dehydrogenase deficiency , 1990, Journal of Inherited Metabolic Disease.
[13] L. Hoefsloot,et al. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome , 2011, Nature Genetics.
[14] D. Webster. Hereditary orotic aciduria and other disorders of pyrimidine metabolism , 1995 .
[15] P. Berman,et al. Orotate uptake and metabolism by human erythrocytes. , 1984, Advances in experimental medicine and biology.