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Number of items: 19.

Rommer, Paulus S; Zschocke, Johannes; Fowler, Brian; Födinger, Manuela; Konstantopoulou, Vassiliki; Möslinger, Dorothea; Stögmann, Elisabeth; Suess, Erhard; Baumgartner, Matthias; Auff, Eduard; Sunder-Plassmann, Gere (2017). Manifestations of neurological symptoms and thromboembolism in adults with MTHFR-deficiency. Journal of the Neurological Sciences, 383:123-127.

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.

Baumgartner, Matthias; Suormala, T (2016). Biotin responsive multiple carboxylase deficiencies. In: Saudubray, Jean-Marie; Baumgartner, Matthias; Walter, John. Inborn metabolic diseases : diagnosis and treatment. Berlin Heidelberg: Springer Berlin Heidelberg, 375-383.

Baumgartner, Matthias; Valle, David; Dionisi-Vici, Carlo (2016). Disorders of ornithine and proline metabolism. In: Saudubray, Jean-Marie; Baumgartner, Matthias; Walter, John. Inborn metabolic diseases : diagnosis and treatment. Berlin Heidelberg: Springer Berlin Heidelberg, 321-331.

Inborn metabolic diseases : diagnosis and treatment. Edited by: Saudubray, Jean-Marie; Baumgartner, Matthias; Walter, John (2016). Berlin Heidelberg: Springer.

Burrage, Lindsay C; Sun, Qin; Elsea, Sarah H; Jiang, Ming-Ming; Nagamani, Sandesh C S; Frankel, Arthur E; Stone, Everett; Alters, Susan E; Johnson, Dale E; Rowlinson, Scott W; Georgiou, George; Lee, Brendan H; Baumgartner, Matthias (2015). Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency. Human Molecular Genetics, 24(22):6417-6427.

Arrizza, Chiara; De Gottardi, Andrea; Foglia, Ezio; Baumgartner, Matthias; Gautschi, Matthias; Nuoffer, Jean-Marc (2015). Reversal of cardiomyopathy in propionic acidemia after liver transplantation: a 10-year follow-up. Transplant International, 28(12):1447-1450.

Koenig, Jens C; Rutsch, Frank; Bockmeyer, Clemens; Baumgartner, Matthias; Beck, Bodo B; Kranz, Brigitta; Konrad, Martin (2015). Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency. Pediatric Nephrology, 30(7):1203-1206.

Palhais, Bruno; Præstegaard, Veronica S; Sabaratnam, Rugivan; Doktor, Thomas Koed; Lutz, Seraina; Burda, Patricie; Suormala, Terttu; Baumgartner, Matthias; Fowler, Brian; Bruun, Gitte Hoffmann; Andersen, Henriette Skovgaard; Kožich, Viktor; Andresen, Brage Storstein (2015). Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells. Nucleic Acids Research, 43(9):4627-4639.

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.

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.

Jost, Christine; Rohrbach, Marianne; Matyas, Gabor; Schoenhoff, Florian; Baumgartner, Matthias; Oxenius, Angela; Carrel, Thierry; Huebler, Michael; Min, Kan; De Pasquale, Gabriella; Landau, Klara; Kretschmar, Oliver; Odavic, Dragan; Vogt, Paul; Faletra, Francesco; Greutmann, Matthias (2015). Syndrome de Marfan. Swiss Medical Forum, 15(29-30):674-683.

Fischer, Sabine; Huemer, Martina; Baumgartner, Matthias; Deodato, Federica; Ballhausen, Diana; Boneh, Avihu; Burlina, Alberto B; Cerone, Roberto; Garcia, Paula; Gökçay, Gülden; Grünewald, Stephanie; Häberle, Johannes; Jaeken, Jaak; Ketteridge, David; Lindner, Martin; Mandel, Hanna; Martinelli, Diego; Martins, Esmeralda G; Schwab, Karl O; Gruenert, Sarah C; Schwahn, Bernd C; Sztriha, László; Tomaske, Maren; Trefz, Friedrich; Vilarinho, Laura; Rosenblatt, David S; Fowler, Brian; Dionisi-Vici, Carlo (2014). Clinical presentation and outcome in a series of 88 patients with the cblC defect. Journal of Inherited Metabolic Disease, 37(5):831-840.

Baumgartner, Matthias; Fowler, Brian (2014). Vitamin B12 Disorders. In: Blau, Nenad; Duran, M; Gibson, K M; Dionisi-Vici, C. Physician's Guide to the Diagnosis, Treatment and Follow-up of Inherited Metabolic Diseases. Berlin: Springer Verlag, 205-218.

Rohrbach, Marianne; Spencer, Helen L; Porter, Louise F; Burkitt-Wright, Emma M M; Bürer, Céline; Janecke, Andreas; Bakshi, Madhura; Sillence, David; Al-Hussain, Hailah; Baumgartner, Matthias; Steinmann, Beat; Black, Graeme C M; Manson, Forbes D C; Giunta, Cecilia (2013). ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components. Molecular Genetics and Metabolism, 109(3):289-295.

Rueegg, Corina S; Kuehni, Claudia E; Gallati, Sabina; Baumgartner, Matthias; Torresani, Toni; Barben, Juerg (2013). One-year evaluation of a neonatal screening program for cystic fibrosis in Switzerland. Deutsches Ärzteblatt International, 110(20):356-363.

Suormala, Terttu; Baumgartner, Matthias; Fowler, Brian (2008). Biotinidase. In: Blau, Nenad; Duran, Marinus; Gibson, K Michael. Laboratory Guide to the Methods in Biochemical Genetics. Berlin: Springer Verlag, 253-264.

This list was generated on Tue Aug 14 10:38:58 2018 CEST.