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Number of items: 9.

Zeltner, Nina A; Baumgartner, Matthias R; Bondarenko, Aljona; Ensenauer, Regina; Karall, Daniela; Kölker, Stefan; Mühlhausen, Chris; Scholl-Bürgi, Sabine; Thimm, Eva; Quitmann, Julia; Burgard, Peter; Landolt, Markus A; Huemer, Martina (2017). Development and psychometric evaluation of the MetabQoL 1.0: a quality of life questionnaire for paediatric patients with intoxication-type inborn errors of metabolism. JIMD Reports:Epub ahead of print.

Zeltner, Nina A; Landolt, Markus A; Baumgartner, Matthias R; Lageder, Sarah; Quitmann, Julia; Sommer, Rachel; Karall, Daniela; Mühlhausen, Chris; Schlune, Andrea; Scholl-Bürgi, Sabine; Huemer, Martina (2016). Living with intoxication-type inborn errors of metabolism: a qualitative analysis of interviews with paediatric patients and their parents. JIMD Reports, 31:1-9.

Huemer, Martina; Carvalho, Daniel R; Brum, Jaime M; Ünal, Özlem; Coskun, Turgay; Weisfeld-Adams, James D; Schrager, Nina L; Scholl-Bürgi, Sabine; Schlune, Andrea; Donner, Markus G; Hersberger, Martin; Gemperle, Claudio; Riesner, Brunhilde; Ulmer, Hanno; Häberle, Johannes; Karall, Daniela (2016). Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency. Journal of Inherited Metabolic Disease, 39(3):331-340.

Karall, Daniela; Brunner-Krainz, Michaela; Kogelnig, Katharina; Konstantopoulou, Vassiliki; Maier, Esther M; Möslinger, Dorothea; Plecko, Barbara; Sperl, Wolfgang; Volkmar, Barbara; Scholl-Bürgi, Sabine (2015). Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD). Orphanet Journal of Rare Diseases, 10(21):online.

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.

Karall, Daniela; Scholl-Bürgi, Sabine; Widmann, Gerlig; Albrecht, Ursula; Niedermayr, Katharina; Maurer, Kathrin; Ausserer, Bernd; Huemer, Martina; Bale, Reto (2014). Stereotactic radiofrequency ablation for liver tumors in inherited metabolic disorders. Cardiovascular and Interventional Radiology, 37(4):1027-1033.

Sterl, Elisabeth; Paul, Karl; Paschke, Eduard; Zschocke, Johannes; Brunner-Krainz, Michaela; Windisch, Eva; Konstantopoulou, Vassiliki; Möslinger, Dorothea; Karall, Daniela; Scholl-Bürgi, Sabine; Sperl, Wolfgang; Lagler, Florian; Plecko, Barbara (2013). Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients. Journal of Inherited Metabolic Disease, 36(1):7-13.

Grünert, Sarah C; Müllerleile, Stephanie; De Silva, Linda; Barth, Michael; Walter, Melanie; Walter, Kerstin; Meissner, Thomas; Lindner, Martin; Ensenauer, Regina; Santer, René; Bodamer, Olaf A; Baumgartner, Matthias R; Brunner-Krainz, Michaela; Karall, Daniela; Haase, Claudia; Knerr, Ina; Marquardt, Thorsten; Hennermann, Julia B; Steinfeld, Robert; Beblo, Skadi; Koch, Hans-Georg; Konstantopoulou, Vassiliki; Scholl-Bürgi, Sabine; van Teeffelen-Heithoff, Agnes; Suormala, Terttu; Sperl, Wolfgang; Kraus, Jan P; Superti-Furga, Andrea; Schwab, Karl Otfried; Sass, Jörn Oliver (2013). Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. Orphanet Journal of Rare Diseases, 8:6.

Karall, Daniela; Haberlandt, Edda; Albrecht, Ursula; Rostasy, Kevin; Häberle, Johannes; Scholl-Bürgi, Sabine (2012). Unrecognized citrullinemia mimicking encephalitis in a 14-year-old boy: unexpected result through the use of a standardized lumbar puncture protocol. Neuropediatrics, 43(2):59-63.

This list was generated on Tue Oct 24 06:14:42 2017 CEST.