Items where Author is "Coelho, David"

2009

Miousse, Isabelle R. and Watkins, David and Coelho, David and Rupar, Tony and Crombez, Eric A. and Vilain, Eric and Bernstein, Jonathan A. and Cowan, Tina and Lee-Messer, Christopher and Enns, Gregory M. and Fowler, Brian and Rosenblatt, David S.. (2009) Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism. Journal of Pediatrics, 154 (4). pp. 551-556.

Lerner-Ellis, Jordan P. and Anastasio, Natascia and Liu, Junhui and Coelho, David and Suormala, Terttu and Stucki, Martin and Loewy, Amanda D. and Gurd, Scott and Grundberg, Elin and Morel, Chantal F. and Watkins, David and Baumgartner, Matthias R. and Pastinen, Tomi and Rosenblatt, David S. and Fowler, Brian. (2009) Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. Human mutation, Vol. 30, no. 7. pp. 1072-1081.

2008

Coelho, David and Suormala, Terttu and Stucki, Martin and Lerner-Ellis, Jordan P. and Rosenblatt, David S. and Newbold, Robert F. and Baumgartner, Matthias R. and Fowler, Brian. (2008) Gene identification for the cblD defect of vitamin B12 metabolism. The New England journal of medicine, Vol. 358, no. 14. pp. 1454-1464.

2005

Dantas, 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.

2004

Suormala, Terttu and Baumgartner, Matthias R. and Coelho, David and Zavadakova, Petra and Kozich, Viktor and Koch, Hans Georg and Berghaüser, Martin and Wraith, James E. and Burlina, Alberto and Sewell, Adrian and Herwig, Jürgen and Fowler, Brian. (2004) The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis. Journal of biological chemistry, Vol. 279, no. 41. pp. 42742-42749.