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Scaglia, F; Blau, N (2014). Disorders of Folate Metabolism and Transport. In: Blau, N; Duran, M; Gibson, K M; Dionisi-Vici, C. Physician's Guide to the Diagnosis, Treatment, and Follow-up of Inherited Metabolic Diseases. s.n.: Springer-Verlag, 167-178.

Blau, Nenad; van Spronsen, Francjan J (2014). Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism. In: Blau, N; Duran, M; Gibson, K M; Dionisi-Vici, C. Physician's Guide to the Diagnosis, Treatment, and Follow-up of Inherited Metabolic Diseases. s.n.: Springer-Verlag, 3-21.

Blau, Nenad; Duran, M; Gibson, K M; Dionisi-Vici, C (2014). Physician's Guide to the Diagnosis, Treatment, and Follow-up of Inherited Metabolic Diseases. Heidelberg-Berlin: Springer.

Baumgartner, Matthias; Fowler, Brian (2014). Vitamin B12 Disorders. In: Blau, Nenad; Duran, M; Gibson, K M; Dionisi-Vici, C. Physician's Guide to the Diagnosis, Treatment and Follow-up of Inherited Metabolic Diseases. Berlin: Springer Verlag, 205-218.

Martinelli, D; Häberle, J; Rubio, V; Giunta, C; Hausser, I; Carrozzo, R; Gougeard, N; Marco-Marín, C; Goffredo, B M; Meschini, M C; Bevivino, E; Boenzi, S; Colafati, G S; Brancati, F; Baumgartner, M R; Dionisi-Vici, C (2012). Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine. Journal of Inherited Metabolic Disease, 35(5):761-776.

Hörster, F; Garbade, S F; Zwickler, T; Aydin, H I; Bodamer, O A; Burlina, A B; Das, A M; De Klerk, J B; Dionisi-Vici, C; Geb, S; Gökcay, G; Guffon, N; Maier, E M; Morava, E; Walter, J H; Schwan, B; Wijburg, F A; Lindner, M; Grünewald, S; Baumgartner, M R; Kölker, S (2009). Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters. Journal of Inherited Metabolic Disease, 32(5):630-639.

Vleugels, W; Haeuptle, M A; Ng, B G; Michalski, J C; Battini, R; Dionisi-Vici, C; Ludman, M D; Jaeken, J; Foulquier, F; Freeze, H H; Matthijs, G; Hennet, T (2009). RFT1 deficiency in three novel CDG patients. Human Mutation, 30(10):1428-1434.

Jaeken, J; Vleugels, W; Régal, L; Corchia, C; Goemans, N; Haeuptle, M A; Foulquier, F; Hennet, T; Matthijs, G; Dionisi-Vici, C (2009). RFT1-CDG: Deafness as a novel feature of congenital disorders of glycosylation. Journal of Inherited Metabolic Disease, 32(S1):335-338.

This list was generated on Wed Jul 26 15:38:48 2017 CEST.