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Human Mutation|June 30, 2000
Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPSN Blau, T Scherer-Oppliger, A Baumer, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|July 16, 1993
Hyperphenylalaninemia and pterin metabolism in serum and erythrocytesA Ponzone, O Guardamagna, M Spada, et al.Human Mutation|January 1, 1997
Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian familiesT Oppliger, B Thöny, C Kluge, et al.Biochemical and Molecular Medicine|August 1, 1996
Tetrahydrobiopterin loading test in xanthine dehydrogenase and molybdenum cofactor deficienciesN Blau, J B de Klerk, B Thöny, et al.Magnetic Resonance in Medicine|August 2, 2012
A 64-channel 3T array coil for accelerated brain MRIBoris Keil, James N Blau, Stephan Biber, et al.Molecular Genetics and Metabolism|August 5, 2000
Hyperphenylalaninemia and 7-pterin excretion associated with mutations in 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH: analysis of enzyme activity in intestinal biopsiesJ E Ayling, S W Bailey, S R Boerth, et al.Journal of Inherited Metabolic Disease|October 16, 2009
Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiencyN Vatanavicharn, C Kuptanon, S Liammongkolkul, et al.Pediatric Research|December 1, 1992
Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detectionN Blau, C W Heizmann, W Sperl, et al.Journal of Cardiothoracic Surgery|August 3, 2014
Microporous polysaccharide hemosphere absorbable hemostat use in cardiothoracic surgical proceduresBrian A Bruckner, Lance N Blau, Limael Rodriguez, et al.Acta Neurologica Scandinavica. Supplementum|March 5, 2014
Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase geneJ Koht, A Rengmark, T Opladen, et al.Pageof 21