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Number of items: 5.

van Vliet, Danique; van Wegberg, Annemiek M J; Ahring, Kirsten; Bik-Multanowski, Miroslaw; Blau, Nenad; Bulut, Fatma D; Casas, Kari; Didycz, Bozena; Djordjevic, Maja; Federico, Antonio; Feillet, François; Gizewska, Maria; Gramer, Gwendolyn; Hertecant, Jozef L; Hollak, Carla E M; Jørgensen, Jens V; Karall, Daniela; Landau, Yuval; Leuzzi, Vincenzo; Mathisen, Per; Moseley, Kathryn; Mungan, Neslihan Ö; Nardecchia, Francesca; Õunap, Katrin; Powell, Kimberly K; Ramachandran, Radha; Rutsch, Frank; Setoodeh, Aria; Stojiljkovic, Maja; Trefz, Fritz K; Usurelu, Natalia; Wilson, Callum; can Karnebeek, Clara D; Hanley, William B; van Spronsen, Francjan J (2018). Can untreated PKU patients escape from intellectual disability? A systematic review. Orphanet Journal of Rare Diseases, 13(1):149.

Giżewska, Maria; MacDonald, Anita; Bélanger-Quintana, Amaya; Burlina, Alberto; Cleary, Maureen; Coşkun, Turgay; Feillet, François; Muntau, Ania C; Trefz, Friedrich K; van Spronsen, Francjan J; Blau, Nenad (2016). Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results. European Journal of Pediatrics, 175(2):261-272.

Mills, Philippa B; Camuzeaux, Stephane S M; Footitt, Emma J; Mills, Kevin A; Gissen, Paul; Fisher, Laura; Das, Krishna B; Varadkar, Sophia M; Zuberi, Sameer; McWilliam, Robert; Stödberg, Tommy; Plecko, Barbara; Baumgartner, Matthias R; Maier, Oliver; Calvert, Sophie; Riney, Kate; Wolf, Nicole I; Livingston, John H; Bala, Pronab; Morel, Chantal F; Feillet, François; Raimondi, Francesco; Del Giudice, Ennio; Chong, W Kling; Pitt, Matthew; Clayton, Peter T (2014). Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome. Brain, 137(5):1350-1360.

Fofou-Caillierez, Ma'atem B; Mrabet, Nadir T; Chéry, Céline; Dreumont, Natacha; Flayac, Justine; Pupavac, Mihaela; Paoli, Justine; Alberto, Jean-Marc; Coelho, David; Camadro, Jean-Michel; Feillet, François; Watkins, David; Fowler, Brian; Rosenblatt, David S; Guéant, Jean-Louis (2013). Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia. Human Molecular Genetics, 22(22):4591-4601.

Cleary, Maureen; Trefz, Friedrich; Muntau, Ania C; Feillet, François; van Spronsen, Francjan J; Burlina, Alberto; Bélanger-Quintana, Amaya; Giżewska, Maria; Gasteyger, Christoph; Bettiol, Esther; Blau, Nenad; MacDonald, Anita (2013). Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes. Molecular Genetics and Metabolism, 110(4):418-423.

This list was generated on Mon Jul 22 11:32:53 2019 CEST.