Gautschi, Matthias

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2016

Laemmle, Alexander; Gallagher, Renata C; Keogh, Adrian; Stricker, Tamar; Gautschi, Matthias; Nuoffer, Jean-Marc; Baumgartner, Matthias R; Häberle, Johannes (2016). Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD). PLoS ONE, 11(4), e0153358. Public Library of Science 10.1371/journal.pone.0153358

2015

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), pp. 1447-1450. Wiley-Blackwell 10.1111/tri.12677

Cioccari, Luca; Gautschi, Matthias; Etter, Reto; Weck, Anja; Takala, Jukka (2015). Further Concerns About Glutamine: A Case Report on Hyperammonemic Encephalopathy. Critical care medicine, 43(10), e458-e460. Lippincott Williams & Wilkins 10.1097/CCM.0000000000001151

Klinke, Glynis; Rohrbach, Marianne; Giugliani, Roberto; Burda, Patricie; Baumgartner, Matthias R; Tran, Christel; Gautschi, Matthias; Mathis, Déborah; Hersberger, Martin (2015). LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases. Clinical biochemistry, 48(9), pp. 596-602. Elsevier 10.1016/j.clinbiochem.2015.03.007

Lämmle, Alexander; Hahn, Dagmar Karen; Hu, Liyan; Rüfenacht, Véronique; Gautschi, Matthias; Leibundgut, Kurt; Nuoffer, Jean-Marc; Häberle, Johannes (2015). Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation. Molecular genetics and metabolism, 114(3), pp. 438-444. Elsevier 10.1016/j.ymgme.2015.01.002

Gautschi, Matthias; Weisstanner, Christian; Slotboom, Johannes; Nava, Esmeralda; Zürcher, Theres; Nuoffer, Jean-Marc (2015). Highly efficient ketone body treatment in multiple acyl-CoA dehydrogenase deficiency-related leukodystrophy. Pediatric research, 77(1), pp. 91-98. Nature Publishing Group 10.1038/pr.2014.154

2014

Mayorandan, Sebene; Meyer, Uta; Gokcay, Gülden; Segarra, Nuria; de Baulny, Hélène; van Spronsen, Francjan; Zeman, Jiri; de Laet, Corinne; Spiekerkoetter, Ute; Thimm, Eva; Maiorana, Arianna; Dionisi-Vici, Carlo; Moeslinger, Dorothea; Brunner-Krainz, Michaela; Lotz-Havla, Amelie; Cocho de Juan, José; Couce Pico, Maria; Santer, René; Scholl-Bürgi, Sabine; Mandel, Hanna; ... (2014). Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice. Orphanet journal of rare diseases, 9(1), p. 107. BioMed Central 10.1186/s13023-014-0107-7

Gautschi, Matthias; Merlini, Laura; Calza, Anne-Marie; Hayflick, Susan; Nuoffer, Jean-Marc; Fluss, Joel (2014). Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin. European journal of paediatric neurology, 18(4), pp. 516-519. Elsevier 10.1016/j.ejpn.2014.02.005

Gautschi, Matthias; Eggimann, Sandra; Nuoffer, Jean-Marc (2014). Current role of enzyme analysis for urea cycle disorders. Journal of Pediatric Biochemistry, 4(1), pp. 23-32. IOS Press 10.3233/JPB-140103

Pers, Sabrina; Gautschi, Matthias; Nuoffer, Jean-Marc; Schwarz, Hans Peter; Christ, Emanuel (2014). Integration of adult patients with phenylketonuria into professional life: long-term follow-up of 27 patients in a single centre in Switzerland. Swiss medical weekly, 144, w14074. EMH Schweizerischer Ärzteverlag 10.4414/smw.2014.14074

2013

Jackson, Christopher; Nuoffer, Jean-Marc; Hahn, Dagmar Karen; Prokisch, Holger; Haberberger, Birgit; Gautschi, Matthias; Haeberli, Annemarie; Gallati, Sabina; Schaller, André (2013). Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. Journal of medical genetics, 51(3), pp. 170-175. BMJ Publishing Group 10.1136/jmedgenet-2013-101932

Jones, Simon A.; Parini, Rossella; Harmatz, Paul; Giugliani, Roberto; Fang, Juanzhi; Mendelsohn, Nancy J.; on behalf of the HOS Investigators, The HOS Natural History Working Group; Gautschi, Matthias (2013). The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS). Molecular genetics and metabolism, 109(1), pp. 41-48. Elsevier 10.1016/j.ymgme.2013.03.001

Goeggel, Barbara; Ritter, Barbara; Gautschi, Matthias; Wehrli, Edith; Boltshauser, Eugen; Schmitt-Mechelke, Thomas; Weber, Peter; Weissert, Markus; El-Koussy, Marwan; Steinlin, Maja (2013). Basilar artery stroke in childhood. Developmental medicine and child neurology, 55(1), pp. 65-70. Oxford: Blackwell 10.1111/dmcn.12015

Rüegger, Corinne M; Lindner, Martin; Ballhausen, Diana; Baumgartner, Matthias R; Beblo, Skadi; Das, Anibh; Gautschi, Matthias; Glahn, Esther M; Grünert, Sarah C; Hennermann, Julia; Hochuli, Michel; Huemer, Martina; Karall, Daniela; Kölker, Stefan; Lachmann, Robin H; Lotz-Havla, Amelie; Möslinger, Dorothea; Nuoffer, Jean-Marc; Plecko, Barbara; Rutsch, Frank; ... (2013). Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. Journal of inherited metabolic disease, 37(1), pp. 21-30. Lancaster, UK: Springer

2012

Nava, Esmeralda; Weber, Peter; Gautschi, Matthias; Nuoffer, Jean-Marc; Grunt, Sebastian (2012). Botulinum Toxin Type A for the Treatment of Equinus Deformity in to Patients With Mucopolysaccharidosis Type II. Journal of child neurology, 27(12), pp. 1611-5. Hamilton, Ontario: Decker 10.1177/0883073812438100

Gautschi, Matthias; Pavlovic, Mladen; Nuoffer, Jean-Marc (2012). Fatal myocardial infarction at 4.5 years in a case of homozygous familial hypercholesterolaemia. In: , (ed.) JIMD Reports - Case and Research Reports, 2011/2. JIMD Reports: Vol. 2 (pp. 45-50). Berlin: Springer 10.1007/8904_2011_45

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