Header

UZH-Logo

Maintenance Infos

Browse by Creators

Navigate back| Up a level
Export as
Number of items: 9.

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.

van Spronsen, Francjan J; Himmelreich, Nastassja; Rüfenacht, Véronique; Shen, Nan; Vliet, Danique van; Al-Owain, Mohammed; Ramzan, Khushnooda; Alkhalifi, Salwa M; Lunsing, Roelineke J; Heiner-Fokkema, Rebecca M; Rassi, Anahita; Gemperle-Britschgi, Corinne; Hoffmann, Georg F; Blau, Nenad; Thöny, Beat (2018). Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability. Journal of Medical Genetics, 55(4):249-253.

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.

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.

Phenylketonuria and BH4 Deficiencies. Edited by: Blau, Nenad; Burlina, Alberto B; Burton, Barbara K; Levy, Harvey L; Longo, Nicola; MacDonald, Anita; Martinez, Aurora; van Spronsen, Francjan J; Thöny, Beat (2016). Bremen: UNI-MED Verlag AG.

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.

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.

Anjema, Karen; van Rijn, Margreet; Hofstede, Floris C; Bosch, Annet M; Hollak, Carla Em; Rubio-Gozalbo, Estela; de Vries, Maaike C; Janssen, Mirian Ch; Boelen, Carolien Ca; Burgerhof, Johannes Gm; Blau, Nenad; Heiner-Fokkema, M Rebecca; van Spronsen, Francjan J (2013). Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype. Orphanet Journal of Rare Diseases, 8:103.

This list was generated on Tue Sep 24 11:38:42 2019 CEST.