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Number of items: 5.

Tran, Christel; Serratrice, Jacques; Nuoffer, Jean-Marc; Schaller, Andre; Favrat, Bernard; Barbey, Frederic; Lobrinus, J Alexander; Kern, Ilse; Kuntzer, Thierry; Ballhausen, Diana (2017). Raising the internist's know-how in the field of rare diseases: mitochondrial diseases as an illustrative example. Revue Médicale Suisse, 13(546):159-163.

Huemer, Martina; Scholl-Bürgi, Sabine; Hadaya, Karine; Kern, Ilse; Beer, Ronny; Seppi, Klaus; Fowler, Brian; Baumgartner, Matthias R; Karall, Daniela (2014). Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy. Orphanet Journal of Rare Diseases, 9:161.

Porri, Stephanie; Fluss, Joel; Plecko, Barbara; Paschke, Eduard; Korff, Christian M; Kern, Ilse (2014). Positive outcome following early diagnosis and treatment of pyridoxal-5'-phosphate oxidase deficiency: a case report. Neuropediatrics, 45(1):64-68.

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.

Opladen, Thomas; Zurflüh, Marcel; Kern, Ilse; Kierat, Lucja; Thöny, Beat; Blau, Nenad (2005). Severe mucitis after sublingual administration of tetrahydrobiopterin in a patient with tetrahydrobiopterin-responsive phenylketonuria. European Journal of Pediatrics, 164(6):395-396.

This list was generated on Tue Jun 18 22:50:58 2019 CEST.