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Number of items: 9.

Williams, Monique; Burlina, Alberto; Rubert, Laura; Polo, Giulia; Ruijter, George J G; van den Born, Myrthe; Rüfenacht, Véronique; Haskins, Nantaporn; van Zutven, Laura J C M; Tuchman, Mendel; Saris, Jasper J; Häberle, Johannes; Caldovic, Ljubica (2018). N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region. Scientific Reports, 8(1):15436.

van Spronsen, Francjan J; van Wegberg, Annemiek Mj; Ahring, Kirsten; Bélanger-Quintana, Amaya; Blau, Nenad; Bosch, Annet M; Burlina, Alberto; Campistol, Jaime; Feillet, Francois; Giżewska, Maria; Huijbregts, Stephan C; Kearney, Shauna; Leuzzi, Vincenzo; Maillot, Francois; Muntau, Ania C; Trefz, Fritz K; van Rijn, Margreet; Walter, John H; MacDonald, Anita (2017). Key European guidelines for the diagnosis and management of patients with phenylketonuria. The Lancet. Diabetes & Endocrinology, 5(9):743-756.

Huemer, Martina; Diodato, Daria; Schwahn, Bernd; Schiff, Manuel; Bandeira, Anabela; Benoist, Jean-Francois; Burlina, Alberto; Cerone, Roberto; Couce, Maria L; Garcia-Cazorla, Angeles; la Marca, Giancarlo; Pasquini, Elisabetta; Vilarinho, Laura; Weisfeld-Adams, James D; Kožich, Viktor; Blom, Henk; Baumgartner, Matthias R; Dionisi-Vici, Carlo (2017). Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. Journal of Inherited Metabolic Disease, 40(1):21-48.

Diez-Fernandez, Carmen; Rüfenacht, Véronique; Santra, Saikat; Lund, Allan M; Santer, René; Lindner, Martin; Tangeraas, Trine; Unsinn, Caroline; de Lonlay, Pascale; Burlina, Alberto; van Karnebeek, Clara D M; Häberle, Johannes (2016). Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis. Genetics in Medicine, 18(10):991-1000.

Unsinn, Caroline; Das, Anibh; Valayannopoulos, Vassili; Thimm, Eva; Beblo, Skadi; Burlina, Alberto; Konstantopoulou, Vassiliki; Mayorandan, Sebene; de Lonlay, Pascale; Rennecke, Jörg; Derbinski, Jens; Hoffmann, Georg F; Häberle, Johannes (2016). Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013. Orphanet Journal of Rare Diseases, 11(1):116.

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.

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.

Keil, Stefanie; Anjema, Karen; van Spronsen, Francjan J; Lambruschini, Nilo; Burlina, Alberto; Bélanger-Quintana, Amaya; Couce, Maria L; Feillet, Francois; Cerone, Roberto; Lotz-Havla, Amelie S; Muntau, Ania C; Bosch, Annet M; Meli, Concetta A P; Billette de Villemeur, Thierry; Kern, Ilse; Riva, Enrica; Giovannini, Marcello; Damaj, Lena; Leuzzi, Vincenzo; Blau, Nenad (2013). Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study. Pediatrics, 131(6):e1881-e1888.

Häberle, Johannes; Boddaert, Nathalie; Burlina, Alberto; Chakrapani, Anupam; Dixon, Marjorie; Huemer, Martina; Karall, Daniela; Martinelli, Diego; Crespo, Pablo Sanjurjo; Santer, René; Servais, Aude; Valayannopoulos, Vassili; Lindner, Martin; Rubio, Vicente; Dionisi-Vici, Carlo (2012). Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet Journal of Rare Diseases, 7:32.

This list was generated on Fri Sep 20 00:54:24 2019 CEST.