Items where Author is "Fowler, B."

2010

van Kuilenburg, A. B. P. and Meijer, J. and Gökcay, G. and Baykal, T. and Rubio-Gozalbo, M. E. and Mul, A. N. P. M. and de Die-Smulders, C. E. M. and Weber, P. and Mori, A. Capone and Bierau, J. and Fowler, B. and Macke, K. and Sass, J. O. and Meinsma, R. and Hennermann, J. B. and Miny, P. and Zoetekouw, L. and Roelofsen, J. and Vijzelaar, R. and Nicolai, J. and Hennekam, R. C. M.. (2010) Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD. Nucleosides, nucleotides & nucleic acids, Vol. 29, H. 4-6. pp. 509-514.

Urreizti, R. and Moya-García, A. A. and Pino-?ngeles, A. and Cozar, M. and Langkilde, A. and Fanhoe, U. and Esteves, C. and Arribas, J. and Vilaseca, M. A. and Pérez-Dueñas, B. and Pineda, M. and González, V. and Artuch, R. and Baldellou, A. and Vilarinho, L. and Fowler, B. and Ribes, A. and Sánchez-Jiménez, F. and Grinberg, D. and Balcells, S.. (2010) Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency. Clinical genetics, Vol. 78, H. 5. pp. 441-448.

2008

Fowler, B. and Leonard, J. V. and Baumgartner, M. R.. (2008) Causes of and diagnostic approach to methylmalonic acidurias. Journal of inherited metabolic disease, Vol. 31, no. 3. pp. 350-360.

Fowler, B. and Burlina, A. and Kozich, V. and Vianey-Saban, C.. (2008) Quality of analytical performance in inherited metabolic disorders : the role of ERNDIM. Journal of inherited metabolic disease, Vol. 31, no. 6. pp. 680-689.

2007

Rummel, T. and Suormala, T. and Häberle, J. and Koch, H. G. and Berning, C. and Perrett, D. and Fowler, B.. (2007) Intermediate hyperhomocysteinaemia and compound heterozygosity for the common variant c.677C<T and a MTHFR gene mutation. Journal of inherited metabolic disease, Vol. 30, no. 3. p. 401.

2005

Fowler, B.. (2005) Homocystein - ein unabhängiger Risikofaktor für kardiovaskuläre und thrombotische Erkrankungen. Therapeutische Umschau, Bd. 62, H. 9. pp. 641-646.

Linnebank, M. and Lagler, F. and Muntau, A. C. and Röschinger, W. and Olgemöller, B. and Fowler, B. and Koch, H. G.. (2005) Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia : two novel cases. Journal of inherited metabolic disease, Vol. 28, no. 6. pp. 1167-1168.

2004

Stanger, O. and Herrmann, W. and Pietrzik, K. and Fowler, B. and Geisel, J. and Dierkes, J. and Weger, M.. (2004) Clinical use and rational management of homocysteine, folic acid, and B vitamins in cardiovascular and thrombotic diseases. Zeitschrift für Kardiologie, Vol. 93, H. 6. pp. 439-453.

Crespo, J. L. and Helliwell, S. B. and Wiederkehr, C. and Demougin, P. and Fowler, B. and Primig, M. and Hall, M. N.. (2004) NPR1 kinase and RSP5-BUL1/2 ubiquitin ligase control GLN3-dependent transcription in Saccharomyces cerevisiae. Journal of Biological Chemistry, 279 (36). pp. 37512-37517.

2002

Crespo, J. L. and Powers, T. and Fowler, B. and Hall, M. N.. (2002) The TOR-controlled transcription activators GLN3, RTG1, and RTG3 are regulated in response to intracellular levels of glutamine. Proceedings of the National Academy of Sciences of the United States of America, 99 (10). pp. 6784-6789.