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Number of items: 14.

Jackson, Christopher B; Huemer, Martina; Bolognini, Ramona; Martin, Franck; Szinnai, Gabor; Donner, Birgit C; Richter, Uwe; Battersby, Brendan J; Nuoffer, Jean-Marc; Suomalainen, Anu; Schaller, André (2019). A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement. Human Molecular Genetics, 28(4):639-649.

Mueller, Sandro Manuel; Gehrig, Saskia Maria; Petersen, Jens A; Frese, Sebastian; Mihaylova, Violeta; Ligon-Auer, Maria; Khmara, Natalia; Nuoffer, Jean-Marc; Schaller, André; Lundby, Carsten; Toigo, Marco; Jung, Hans H (2017). Effects of endurance training on skeletal muscle mitochondrial function in Huntington disease patients. Orphanet Journal of Rare Diseases, 12(1):184.

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.

Lauber, Matthias; Plecko, Barbara; Pfiffner, Miriam; Nuoffer, Jean-Marc; Häberle, Johannes (2017). The effect of S-adenosylmethionine on self-mutilation in a patient with Lesch-Nyhan disease. In: Morava, E; Baumgartner, M; Patterson, M; Rahman, S; Zschocke, J; Peters, V. JIMD Reports, Volume 32. Berlin, Heidelberg: Springer, 51-57.

Inauen, Corinne; Rüfenacht, Véronique; Pandey, Amit V; Hu, Liyan; Blom, Henk; Nuoffer, Jean-Marc; Häberle, Johannes (2016). Effect of cysteamine on mutant ASL proteins with cysteine for arginine substitutions. Molecular Diagnosis & Therapy, 20(2):125-133.

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.

Hu, Liyan; Pandey, Amit V; Balmer, Cécile; Eggimann, Sandra; Rüfenacht, Véronique; Nuoffer, Jean-Marc; Häberle, Johannes (2015). Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. Journal of Inherited Metabolic Disease, 38(5):815-827.

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.

Laemmle, Alexander; Hahn, Dagmar; 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):438-444.

Abela, Lucia; Plecko, Barbara; Palla, Antonella; Burda, Patricie; Nuoffer, Jean-Marc; Ballhausen, Diana; Rohrbach, Marianne (2014). Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study. Orphanet Journal of Rare Diseases, 9:176.

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; Santer, René; Spiekerkoetter, Ute; Staufner, Christian; Stricker, Tamar; Wijburg, Frits A; Williams, Monique; Burgard, Peter; Häberle, Johannes (2014). Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. Journal of Inherited Metabolic Disease, 37(1):21-30.

Balmer, Cécile; Pandey, Amit V; Rüfenacht, Véronique; Nuoffer, Jean-Marc; Fang, Ping; Wong, Lee-Jun; Häberle, Johannes (2014). Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. Human Mutation, 35(1):27-35.

Hu, Liyan; Pandey, Amit V; Eggimann, Sandra; Rüfenacht, Véronique; Möslinger, Dorothea; Nuoffer, Jean-Marc; Häberle, Johannes (2013). Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. Journal of Biological Chemistry, 288(48):34599-34611.

Engel, Katharina; Vuissoz, Jean-Marc; Eggimann, Sandra; Groux, Murielle; Berning, Christoph; Hu, Liyan; Klaus, Vera; Moeslinger, Dorothea; Mercimek-Mahmutoglu, Saadet; Stöckler, Sylvia; Wermuth, Bendicht; Häberle, Johannes; Nuoffer, Jean-Marc (2012). Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria. Journal of Inherited Metabolic Disease, 35(1):133-140.

This list was generated on Sun Sep 22 10:23:48 2019 CEST.