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Number of items: 14.

Witters, Peter; Debbold, Eric; Crivelly, Kea; Vande Kerckhove, Kristel; Corthouts, Karen; Debbold, Brett; Andersson, Hans; Vannieuwenborg, Lena; Geuens, Sam; Baumgartner, Matthias; Kozicz, Tamas; Settles, Lisa; Morava, Eva (2016). Autism in patients with propionic acidemia. Molecular Genetics and Metabolism, 119(4):317-321.

Zschocke, Johannes; Baumgartner, Matthias R; Morava, Eva; Patterson, Marc C; Peters, Verena; Rahman, Shamima (2016). Recommendations and guidelines in the JIMD: suggested procedures and avoidance of conflicts of interest. Journal of Inherited Metabolic Disease, 39(3):327-329.

Hollak, Carla E M; Biegstraaten, Marieke; Baumgartner, Matthias R; Belmatoug, Nadia; Bembi, Bruno; Bosch, Annet; Brouwers, Martijn; Dekker, Hanka; Dobbelaere, Dries; Engelen, Marc; Groenendijk, Marike C; Lachmann, Robin; Langendonk, Janneke G; Langeveld, Mirjam; Linthorst, Gabor; Morava, Eva; Poll-The, Bwee Tien; Rahman, Shamima; Rubio-Gozalbo, M Estela; Spiekerkoetter, Ute; Treacy, Eileen; Wanders, Ronald; Zschocke, Johannes; Hagendijk, Rob (2016). Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks. Orphanet Journal of Rare Diseases, 11(7):online.

Rahman, Shamima; Baumgartner, Matthias R; Morava, Eva; Patterson, Marc; Peters, Verena; Zschocke, Johannes (2016). Peer review fraud-it's not big and it's not clever. Journal of Inherited Metabolic Disease, 39(1):1-2.

Morava, Eva; Rahman, Shamima; Peters, Verena; Baumgartner, Matthias R; Patterson, Marc; Zschocke, Johannes (2015). Quo vadis: the re-definition of "inborn metabolic diseases". Journal of Inherited Metabolic Disease, 38(6):1003-1006.

Thiels, Charlotte; Fleger, Martin; Huemer, Martina; Rodenburg, Richard J; Vaz, Frederic M; Houtkooper, Riekelt H; Haack, Tobias B; Prokisch, Holger; Feichtinger, René G; Lücke, Thomas; Mayr, Johannes A; Wortmann, Saskia B (2015). Atypical clinical presentations of TAZ mutations: an underdiagnosed cause of growth retardation? In: Morava, Eva; Baumgartner, Matthias; Patterson, Marc; Rahman, Shamima; Zschocke, Johannes; Peters, Verena. JMID Reports. Berlin Heidelberg: Springer, 89-93.

van Karnebeek, Clara D M; Stockler-Ipsiroglu, Sylvia; Jaggumantri, Sravan; Assmann, Birgit; Baxter, Peter; Buhas, Daniela; Bok, Levinus A; Cheng, Barbara; Coughlin, Curtis R; Das, Anibh M; Giezen, Alette; Al-Hertani, Wahla; Ho, Gloria; Meyer, Uta; Mills, Philippa; Plecko, Barbara; Struys, Eduard; Ueda, Keiko; Albersen, Monique; Verhoeven, Nanda; Gospe, Sidney M; Gallagher, Renata C; Van Hove, Johan K L; Hartmann, Hans (2015). Lysine-restricted diet as adjunct therapy for pyridoxine-dependent epilepsy: The PDE consortium consensus recommendations. In: Zschocke, Johannes; Gibson, K Michael; Brown, Garry; Morava, Eva; Peters, Verena. JIMD Reports. Berlin Heidelberg: Springer, 47-57.

Kölker, Stefan; Dobbelaere, Dries; Häberle, Johannes; Burgard, Peter; Gleich, Florian; Summar, Marshall L; Hannigan, Steven; Parker, Samantha; Chakrapani, Anupam; Baumgartner, Matthias R (2015). Networking across borders for individuals with organic acidurias and urea cycle disorders: the E-IMD consortium. In: Zschocke, Johannes; Baumgartner, Matthias; Morava, Eva; Patterson, Marc; Rahman, Shamima; Peters, Verena. JMID Reports. Berlin Heidelberg: Springer, 29-38.

Hahn, Andreas; Praetorius, Susanne; Karabul, Nesrin; Dießel, Johanna; Schmidt, Dorle; Motz, Reinald; Haase, Claudia; Baethmann, Martina; Hennermann, Julia B; Smitka, Martin; Santer, René; Muschol, Nicole; Meyer, Ann; Marquardt, Thorsten; Huemer, Martina; Thiels, Charlotte; Rohrbach, Marianne; Seyfullah, Gökce; Mengel, Eugen (2015). Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany. In: Zschocke, Johannes; Baumgartner, Matthias; Morava, Eva; Patterson, Marc; Rahman, Shamima; Peters, Verena. JMID Reports. Berlin Heidelberg: Springer, 65-75.

Heiber, Stefanie; Zulewski, Henryk; Zaugg, Marianne; Kiss, Caroline; Baumgartner, Matthias (2015). Successful pregnancy in a woman with maple syrup urine disease: dase report. In: Zschocke, Johannes; Baumgartner, Matthias; Morava, Eva; Patterson, Marc; Rahman, Shamima; Peters, Verena. JMID Reports. Berlin Heidelberg: Springer, 103-107.

Sudarsanam, Annapurna; Singh, Harry; Wilcken, Bridget; Stormon, Michael; Arbuckle, Susan; Schmitt, Bernhard; Clayton, Peter; Earl, John; Webster, Richard (2014). Cirrhosis associated with pyridoxal 5'-phosphate treatment of pyridoxamine 5'-phosphate oxidase deficiency. In: Zschocke, Johannes; Gibson, K Michael; Brown, Garry; Morava, Eva; Peters, Verena. JIMD Reports. Berlin Heidelberg: Springer, 67-70.

Ferriero, Rosa; Boutron, Audrey; Brivet, Michele; Kerr, Douglas; Morava, Eva; Rodenburg, Richard J; Bonafé, Luisa; Baumgartner, Matthias R; Anikster, Yair; Braverman, Nancy E; Brunetti-Pierri, Nicola (2014). Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects. Annals of Clinical and Translational Neurology, 1(7):462-470.

Wortmann, Saskia B; Kluijtmans, Leo A J; Rodenburg, Richard J; Sass, Jörn Oliver; Nouws, Jessica; van Kaauwen, Edwin P; Kleefstra, Tjitske; Tranebjaerg, Lisbeth; de Vries, Maaike C; Isohanni, Pirjo; Walter, Katharina; Alkuraya, Fowzan S; Smuts, Izelle; Reinecke, Carolus J; van der Westhuizen, Francois H; Thorburn, David; Smeitink, Jan A M; Morava, Eva; Wevers, Ron A (2013). 3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. Journal of Inherited Metabolic Disease, 36(6):913-921.

Zampatti, Stefania; Castori, Marco; Fischer, Bjoern; Ferrari, Paola; Garavelli, Livia; Dionisi-Vici, Carlo; Agolini, Emanuele; Wischmeijer, Anita; Morava, Eva; Novelli, Giuseppe; Häberle, Johannes; Kornak, Uwe; Brancati, Francesco (2012). De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. American Journal of Medical Genetics. Part A, 158A(4):927-931.

This list was generated on Sat Jun 23 12:50:46 2018 CEST.