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Items where contributor is "Fowler, Brian"

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2011

Rutsch, Frank and Gailus, Susann and Suormala, Terttu and Fowler, Brian. (2011) LMBRD1: the gene for the cblF defect of vitamin B₁₂ metabolism. Journal of inherited metabolic disease, Vol. 34, no. 1. S. 121-126.

Grünert, Sarah Catharina and Fowler, Brian and Superti-Furga, Andrea and Sass, Jörn Oliver and Schwab, Karl Otfried. (2011) Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC disease. Brain & development, Vol. 33, H. 5. S. 432-436.

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. S. 17-24.

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. S. 441-448.

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. S. 509-514.

Gailus, Susann and Höhne, Wolfgang and Gasnier, Bruno and Nürnberg, Peter and Fowler, Brian and Rutsch, Frank. (2010) Insights into lysosomal cobalamin trafficking : lessons learned from cblF disease. Journal of molecular medicine, Vol. 88, no. 5. S. 459-466.

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. S. 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. S. 234-239.

van Kuilenburg, André B. P. and Meijer, Judith and Mul, Adri N. P. M. and Hennekam, Raoul C. M. and Hoovers, Jan M. N. and de Die-Smulders, Christine E. M. and Weber, Peter and Mori, Andrea Capone and Bierau, Jörgen and Fowler, Brian and Macke, Klaus and Sass, Jörn Oliver and Meinsma, Rutger and Hennermann, Julia B. and Miny, Peter and Zoetekouw, Lida and Vijzelaar, Raymon and Nicolai, Joost and Ylstra, Bauke and Rubio-Gozalbo, M. Estela. (2009) Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3). Human genetics, Vol. 125, H. 5-6. S. 581-590.

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. S. 1072-1081.

Ratschmann, Rene and Minkov, Milen and Kis, Ana and Hung, Christina and Rupar, Tony and Mühl, Adolf and Fowler, Brian and Nexo, Ebba and Bodamer, Olaf A.. (2009) Transcobalamin II deficiency at birth. Molecular genetics and metabolism, Vol. 98, no. 3. S. 285-288.

Stanger, Olaf and Fowler, Brian and Piertzik, Klaus and Huemer, Martina and Haschke-Becher, Elisabeth and Semmler, Alexander and Lorenzl, Stefan and Linnebank, Michael. (2009) Homocysteine, folate and vitamin B12 in neuropsychiatric diseases : review and treatment recommendations. Expert review of neurotherapeutics, Vol. 9, H. 9. S. 1393-1412.

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. The Journal of pediatrics, Vol. 154, H. 4. S. 551-556.

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. S. 1454-1464.

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. S. 680-689.

Fowler, Brian. (2008) Methylmalonic aciduria articles. Journal of inherited metabolic disease, Vol. 31, no. 1. S. 4.

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. S. 350-360.

2007

Hörster, Friederike and Baumgartner, Matthias R. and Viardot, Caroline and Suormala, Terttu and Burgard, Peter and Fowler, Brian and Hoffmann, Georg F. and Garbade, Sven F. and Kölker, Stefan and Baumgartner, E. Regula. (2007) Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). Pediatric Research, 62 (2). pp. 225-230.

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. S. 401.

Lempp, Thomas J. and Suormala, Terttu and Siegenthaler, Renate and Baumgartner, E. Regula and Fowler, Brian and Steinmann, Beat and Baumgartner, Matthias R.. (2007) Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria : identification of seven novel mutations. Molecular genetics and metabolism, Vol. 90, no. 3. S. 284-290.

2005

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

Huemer, Martina and Simma, Burkhard and Fowler, Brian and Suormala, Terttu and Bodamer, Olaf A. and Sass, Jörn Oliver. (2005) Prenatal and postnatal treatment in cobalamin C defect. The Journal of pediatrics, Vol. 147, H. 4. S. 469-472.

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. S. 164.

Zavadáková, Petra and Fowler, Brian and Suormala, Terttu and Novotna, Zorka and Mueller, Peter and Hennermann, Julia B. and Zeman, Jirí and Vilaseca, M. Antonia and Vilarinho, Laura and Gutsche, Sven and Wilichowski, Ekkehard and Horneff, Gerd and Kozich, Viktor. (2005) CblE type of homocystinuria due to methionine synthase reductase deficiency : functional correction by minigene expression. Human mutation, Vol. 25, no. 3. S. 239-247.

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. S. 1167-1168.

Fowler, Brian. (2005) Homocysteine : overview of biochemistry, molecular biology, and role in disease processes. Seminars in vascular medicine, Vol. 5, H. 2. S. 77-86.

Clarke, Robert and Smulders, Yvo and Fowler, Brian and Stehouwer, Coen D. A.. (2005) Homocysteine, B-vitamins, and the risk of cardiovascular disease. Seminars in vascular medicine, Vol. 5, no. 2. S. 75-76.

Poloschek, Charlotte M. and Fowler, Brian and Unsold, Renate and Lorenz, Birgit. (2005) Disturbed visual system function in methionine synthase deficiency. Graefe's archive for clinical and experimental ophthalmology, Bd. 243, Nr. 5. S. 497-500.

Herrmann, Wolfgang and Schorr, Heike and Obeid, Rima and Makowski, Julia and Fowler, Brian and Kuhlmann, Martin K.. (2005) Disturbed homocysteine and methionine cycle intermediates S-adenosylhomocysteine and S-adenosylmethionine are related to degree of renal insufficiency in type 2 diabetes. Clinical chemistry, Vol. 51, no. 5. S. 891-897.

2004

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.

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. S. 42742-42749.

Baumgartner, 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. S. 790-800.

Müller, Thomas and Fowler, Brian and Kuhn, Wilfried. (2004) Levodopa intake increases plasma levels of S-adenosylmethionine in treated patients with Parkinson disease. Clinical neuropharmacology, Vol. 28, H. 6. S. 274-276.

Moat SJ, Bao L. and Fowler B, Bonham J. R. and Walter JH, Kraus J. P.. (2004) The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria. Human mutation, Vol. 23, no. 2. S. 206.

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. S. 439-453.

Stanger O, Fowler B. and Herrmann, W.. (2004) Folate therapy and in-stent restenosis. The New England journal of medicine, Vol. 351, no. 12. S. 1259-1260.