Items where Author is "Valle, David"
Number of items: 3. 2009Stucki, Martin and Suormala, Terttu and Fowler, Brian and Valle, David and Baumgartner, Matthias R.. (2009) Cryptic exon activation by disruption of exon splice enhancer : novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency. Journal of biological chemistry, Vol. 284, H. 42. pp. 28953-28957. 2005Dantas, Maria Fernanda and Suormala, Terttu and Randolph, Ann and Coelho, David and Fowler, Brian and Valle, David and Baumgartner, Matthias R.. (2005) 3-Methylcrotonyl-CoA carboxylase deficiency : mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. Human mutation, Vol. 26, no. 2. p. 164. 2004Baumgartner, Matthias R. and Dantas, M. Fernanda and Suormala, Terttu and Almashanu, Shlomo and Giunta, Cecilia and Friebel, Dolores and Gebhardt, Boris and Fowler, Brian and Hoffmann, Georg F. and Baumgartner, E. Regula and Valle, David. (2004) Isolated 3-methylcrotonyl-CoA carboxylase deficiency : evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. American journal of human genetics, Vol. 75, H. 5. pp. 790-800. |
