Items where Author is "Stucki, Martin"

2010

Gailus, Susann and Suormala, Terttu and Malerczyk-Aktas, Ayse Gül and Toliat, Mohammad R. and Wittkampf, Tanja and Stucki, Martin and Nürnberg, Peter and Fowler, Brian and Hennermann, Julia B. and Rutsch, Frank. (2010) A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient. Journal of Inherited Metabolic Disease, Vol. 33, no. 1. pp. 17-24.

2009

Stucki, 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.

Rutsch, Frank and Gailus, Susann and Miousse, Isabelle R. and Suormala, Terttu and Sagné, Corinne and Toliat, Mohammad Reza and Nürnberg, Gudrun and Wittkampf, Tanja and Buers, Insa and Sharifi, Azita and Stucki, Martin and Becker, Christian and Baumgartner, Matthias and Robenek, Horst and Marquardt, Thorsten and Höhne, Wolfgang and Gasnier, Bruno and Rosenblatt, David S. and Fowler, Brian and Nürnberg, Peter. (2009) Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. Nature genetics, Vol. 41, H. 2. pp. 234-239.

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.