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6 results 1
Postprint
Consortium of Swiss Academic Libraries

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment

Burda, P. ; Kuster, A. ; Hjalmarson, O. ; Suormala, T. ; Bürer, C. ; Lutz, S. ; Roussey, G. ; Christa, L. ; Asin-Cayuela, J. ; Kollberg, G. ; Andersson, B. ; Watkins, D. ; Rosenblatt, D. ; Fowler, B. ; Holme, E. ; Froese, D. ; Baumgartner, M.

In: Journal of Inherited Metabolic Disease, 2015, vol. 38, no. 5, p. 863-872

Postprint
Consortium of Swiss Academic Libraries

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

Huemer, M. ; Bürer, C. ; Ješina, P. ; Kožich, V. ; Landolt, M. ; 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. ; Noss, J. ; Parini, R. ; Peters, H. ; Plecko, B. ; Ramos, F. ; Schlune, A. ; Tsiakas, K. ; Zerjav Tansek, M. ; Baumgartner, M.

In: Journal of Inherited Metabolic Disease, 2015, vol. 38, no. 5, p. 957-967

Postprint
Consortium of Swiss Academic Libraries

Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM

Fowler, B. ; Burlina, A. ; Kožich, V. ; Vianey-Saban, C.

In: Journal of Inherited Metabolic Disease, 2009, vol. 32, no. 1, p. 127-127

Postprint
Consortium of Swiss Academic Libraries

Causes of and diagnostic approach to methylmalonic acidurias

Fowler, B. ; Leonard, J. ; Baumgartner, M.

In: Journal of Inherited Metabolic Disease, 2008, vol. 31, no. 3, p. 350-360

Postprint
Consortium of Swiss Academic Libraries

Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM

Fowler, B. ; Burlina, A. ; Kozich, V. ; Vianey-Saban, C.

In: Journal of Inherited Metabolic Disease, 2008, vol. 31, no. 6, p. 680-689

Postprint
Consortium of Swiss Academic Libraries

Evidence for disturbed S-adenosylmethionine : S-adenosylhomocysteine ratio in patients with end-stage renal failure: a cause for disturbed methylation reactions?

Loehrer, F M. ; Angst, C P. ; Brunner, F P. ; Haefeli, W E. ; Fowler, B.

In: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 1998, vol. 13, no. 3, p. 656-661

6 results 1