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Number of items: 10.

Burda, P; Kuster, A; Hjalmarson, O; Suormala, T; Bürer, C; Lutz, S; Roussey, G; Christa, L; Asin-Cayuela, J; Kollberg, G; Andersson, B A; Watkins, D; Rosenblatt, D S; Fowler, B; Holme, E; Froese, D S; Baumgartner, M R (2015). Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment. Journal of Inherited Metabolic Disease, 38(5):863-872.

Huemer, M; Bürer, C; Ješina, P; Kožich, V; Landolt, M A; Suormala, T; Fowler, B; Augoustides-Savvopoulou, P; Blair, E; Brennerova, K; Broomfield, A; De Meirleir, L; Gökcay, G; Hennermann, J; Jardine, P; Koch, J; Lorenzl, S; Lotz-Havla, A S; Noss, J; Parini, R; Peters, H; Plecko, B; Ramos, F J; Schlune, A; Tsiakas, K; Zerjav Tansek, M; Baumgartner, M R (2015). Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data. Journal of Inherited Metabolic Disease, 38(5):957-967.

Morscher, R J; Grünert, S C; Bürer, C; Burda, P; Suormala, T; Fowler, B; Baumgartner, M R (2012). A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. Molecular Genetics and Metabolism, 105(4):602-606.

Guven, A; Cebeci, N; Dursun, A; Aktekin, E H; Baumgartner, M R; Fowler, B (2012). Methylmalonic acidemia mimicking diabetic ketoacidosis in an infant. Pediatric Diabetes, 13(6):e22-5.

Stucki, M; Suormala, T; Fowler, B; Valle, D; Baumgartner, M R (2009). Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency. Journal of Biological Chemistry, 284(42):28953-28957.

Lerner-Ellis, J P; Anastasio, N; Liu, J; Coelho, D; Suormala, T; Stucki, M; Loewy, A D; Gurd, S; Grundberg, E; Morel, C F; Watkins, D; Baumgartner, M R; Pastinen, T; Rosenblatt, D S; Fowler, B (2009). Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. Human Mutation, 30(7):1072-1081.

Rutsch, F; Gailus, S; Miousse, I R; Suormala, T; Sagné, C; Toliat, M R; Nürnberg, G; Wittkampf, T; Buers, I; Sharifi, A; Stucki, M; Becker, C; Baumgartner, M; Robenek, H; Marquardt, T; Höhne, W; Gasnier, B; Rosenblatt, D S; Fowler, B; Nürnberg, P (2009). Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. Nature Genetics, 41(2):234-239.

Coelho, D; Suormala, T; Stucki, M; Lerner-Ellis, J P; Rosenblatt, D S; Newbold, R F; Baumgartner, M R; Fowler, B (2008). Gene identification for the cblD defect of vitamin B12 metabolism. New England Journal of Medicine, 358(14):1454-1464.

Fowler, B; Leonard, J V; Baumgartner, M R (2008). Causes of and diagnostic approach to methylmalonic acidurias. Journal of Inherited Metabolic Disease, 31(3):350-360.

Eichholzer, Monika; Lüthy, J; Moser, U; Fowler, B (2001). Folate and the risk of colorectal, breast and cervix cancer: the epidemiological evidence. Swiss Medical Weekly, 131(37-38):539-549.

This list was generated on Sat Sep 21 01:06:23 2019 CEST.