Nuoffer, Jean-Marc

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2017

Courage, Carolina; Jackson, Christopher; Hahn, Dagmar; Euro, Liliya; Nuoffer, Jean-Marc; Gallati, Sabina; Schaller, André (2017). SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement. American journal of medical genetics. Part A, 173(1), pp. 225-230. Wiley-Liss 10.1002/ajmg.a.37986

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. JIMD reports, 32, pp. 51-57. Springer 10.1007/8904_2016_571

2016

Diserens, Gaëlle; Hertig, Damian; Eggimann, Sandra; Vermathen, Martina; Furrer, Julien; Nuoffer, Jean-Marc; Vermathen, Peter (27 June 2016). Improving the metabolic stability of cultured cells during extended HR-MAS NMR measurements by prior heating (Unpublished). In: 12th Annual Conference of the Metabolomics Society. Dublin, Ireland. 27.-30.06.2016.

Jackson, Christopher; Bauer, M F; Schaller, André; Kotzaeridou, U; Ferrarini, A; Hahn, Dagmar Karen; Chehade, H; Barbey, F; Tran, C; Gallati, S; Haeberli, Annemarie; Eggimann, S; Bonafé, L; Nuoffer, Jean-Marc (2016). A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly. European journal of pediatrics, 175(4), pp. 517-525. Springer 10.1007/s00431-015-2661-y

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

Haack, Tobias B; Jackson, Christopher; Murayama, Kei; Kremer, Laura S; Schaller, André; Kotzaeridou, Urania; de Vries, Maaike C; Schottmann, Gudrun; Santra, Saikat; Büchner, Boriana; Wieland, Thomas; Graf, Elisabeth; Freisinger, Peter; Eggimann, Seila; Ohtake, Akira; Okazaki, Yasushi; Kohda, Masakazu; Kishita, Yoshihito; Tokuzawa, Yoshimi; Sauer, Sascha; ... (2015). Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Annals of Clinical and Translational Neurology, 2(5), pp. 492-509. 10.1002/acn3.189

Hu, Liyan; Pandey, Amit Vikram; 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), pp. 815-827. Springer 10.1007/s10545-014-9807-3

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

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(1), p. 176. BioMed Central 10.1186/s13023-014-0176-7

Sokollik, Christiane; Müller-Suter, Dominik; Nuoffer, Jean-Marc (2014). Stunted growth, splenomegaly, and interstitial pneumopathy. Gastroenterology, 147(4), e3-4. Elsevier 10.1053/j.gastro.2014.04.052

Jackson, Christopher; Neuwirth, Christoph; Hahn, Dagmar Karen; Nuoffer, Jean-Marc; Frank, Stephan; Gallati, Sabina; Schaller, André (2014). Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype. British journal of ophthalmology, 98(10), pp. 1453-1459. BMJ Publishing Group 10.1136/bjophthalmol-2014-305300

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

Tschan, Franziska; Huguenin, M; Seelandt, JC; Semmer, Norbert; Keller, S; Nuoffer, Jean-Marc; Candinas, Daniel; Beldi, Guido (May 2014). Teamwork reduces physiological stress in junior surgeons. British journal of surgery, 101(S5), p. 8. John Wright & Sons

Schild, Christof; Hahn, Dagmar Karen; Schaller, André; Jackson, Christopher; Rothen-Rutishauser, Barbara; Mirkovitch, Jelena; Nuoffer, Jean-Marc (2014). Mitochondrial leucine tRNA level and PTCD1 are regulated in response to leucine starvation. Amino acids, 46(7), pp. 1775-1783. Springer 10.1007/s00726-014-1730-2

Al-Haggar, Mohammad; Largiadèr, Carlo Rodolfo; Abdel-Hady, Dina; Barakat, Tarik; Nuoffer, Jean-Marc; Al-Refaei, Abdel-Aziz (2014). Partial expression of ornithine transcarbamylase deficiency in an Egyptian female carrier. International journal of gynaecology and obstetrics, 124(2), pp. 174-175. Elsevier 10.1016/j.ijgo.2013.09.014

Balmer, Cécile; Pandey, Amit Vikram; 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), pp. 27-35. Wiley-Blackwell 10.1002/humu.22469

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

Hu, Liyan; Pandey, Amit Vikram; 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), pp. 34599-611. American Society for Biochemistry and Molecular Biology 10.1074/jbc.M113.503128

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

Nota, Benjamin; Struys, Eduard A; Pop, Ana; Jansen, Erwin E; Fernandez Ojeda, Matilde R; Kanhai, Warsha A; Kranendijk, Martijn; van Dooren, Silvy J M; Bevova, Marianna R; Sistermans, Erik A; Nieuwint, Aggie W M; Barth, Magalie; Ben-Omran, Tawfeg; Hoffmann, Georg F; de Lonlay, Pascale; McDonald, Marie T; Meberg, Alf; Muntau, Ania C; Nuoffer, Jean-Marc; Parini, Rossella; ... (2013). Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. American journal of human genetics, 92(4), pp. 627-31. New York, N.Y.: Cell Press 10.1016/j.ajhg.2013.03.009

Leichtle, Alexander Benedikt; Ceglarek, U; Weinert, P; Nakas, C T; Nuoffer, Jean-Marc; Kase, J; Conrad, T; Witzigmann, H; Thiery, J; Fiedler, Martin (2013). Pancreatic carcinoma, pancreatitis, and healthy controls: metabolite models in a three-class diagnostic dilemma. Metabolomics, 9(3), pp. 677-687. New York, N.Y.: Springer 10.1007/s11306-012-0476-7

2012

Hirsch, Andrea; Hahn, Dagmar; Kempná, Petra; Hofer, Gaby; Mullis, Primus E; Nuoffer, Jean-Marc; Flück, Christa E (2012). Role of AMP-activated protein kinase on steroid hormone biosynthesis in adrenal NCI-H295R cells. PLoS ONE, 7(1), e30956. Lawrence, Kans.: Public Library of Science 10.1371/journal.pone.0030956

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

Wilhelm, Matthias; Nuoffer, Jean-Marc; Schmid, Jean-Paul; Wilhelm, Ilca; Saner, Hugo (2012). Comparison of pro-atrial natriuretic peptide and atrial remodeling in marathon versus non-marathon runners. American journal of cardiology, 109(7), pp. 1060-5. New York, N.Y.: Elsevier 10.1016/j.amjcard.2011.11.039

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), pp. 133-40. Lancaster, UK: Springer 10.1007/s10545-011-9357-x

Leichtle, Alexander Benedikt; Nuoffer, Jean-Marc; Ceglarek, Uta; Kase, Julia; Conrad, Tim; Witzigmann, Helmut; Thiery, Joachim; Fiedler, Georg Martin (2012). Serum amino acid profiles and their alterations in colorectal cancer. Metabolomics, 8(4), pp. 643-653. New York, N.Y.: Springer 10.1007/s11306-011-0357-5

Hirsch, Andrea; Hahn, Dagmar; Kempná, Petra; Hofer, Gaby; Nuoffer, Jean-Marc; Mullis, Primus E; Flück, Christa E (2012). Metformin inhibits human androgen production by regulating steroidogenic enzymes HSD3B2 and CYP17A1 and complex I activity of the respiratory chain. Endocrinology, 153(9), pp. 4354-66. Chevy Chase, Md.: Endocrine Society 10.1210/en.2012-1145

Wilhelm, M; Zueger, T; De Marchi, S; Rimoldi, S F; Brugger, N; Steiner, R; Stettler, C; Nuoffer, J-M; Seiler, C; Ith, M (2012). Inflammation and atrial remodeling after a mountain marathon. Scandinavian journal of medicine & science in sports, 24(3), pp. 519-525. Oxford: Wiley-Blackwell 10.1111/sms.12030

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

2011

Boss, Andreas; Kreis, Roland; Jenni, Stefan; Ith, Michael; Nuoffer, Jean-Marc; Christ, Emanuel; Boesch, Chris; Stettler, Christoph (2011). Noninvasive assessment of exercise-related intramyocellular acetylcarnitine in euglycemia and hyperglycemia in patients with type 1 diabetes using ¹H magnetic resonance spectroscopy: a randomized single-blind crossover study. Diabetes care, 34(1), pp. 220-2. Alexandria, Va.: American Diabetes Association 10.2337/dc10-1534

Maalouf, Naim M; Adams-Huet, Beverley; Pasch, Andreas; Lieske, John C; Asplin, John R; Siener, Roswitha; Hesse, Albrecht; Nuoffer, Jean-Marc; Frey, Felix J; Knight, John; Holmes, Ross P; Zerwekh, Joseph E; Bonny, Olivier (2011). Variability in urinary oxalate measurements between six international laboratories. Nephrology, dialysis, transplantation, 26(12), pp. 3954-9. Oxford: Oxford University Press 10.1093/ndt/gfr147

Schaller, André; Hahn, Dagmar; Jackson, Christopher B; Kern, Ilse; Chardot, Christophe; Belli, Dominique C; Gallati, Sabina; Nuoffer, Jean-Marc (2011). Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome. BMC neurology, 11, p. 4. London: BioMed Central 10.1186/1471-2377-11-4

Schlapbach, Luregn J.; Frey, Stefanie; Bigler, Susanna; Manh-Nhi, Chiem; Aebi, Christoph; Nelle, Mathias; Nuoffer, Jean-Marc (2011). Copeptin concentration in cord blood in infants with early-onset sepsis, chorioamnionitis and perinatal asphyxia. BMC pediatrics, 11, p. 38. London: BioMed Central 10.1186/1471-2431-11-38

Schild, Christof; Egger, Florence; Kaelin-Lang, Alain; Nuoffer, Jean-Marc (2011). Monoclonal gammopathy missed by capillary zone electrophoresis. Clinical chemistry and laboratory medicine, 49(7), pp. 1217-9. Berlin: De Gruyter 10.1515/CCLM.2011.189

Schaller, A; Desetty, R; Hahn, D; Jackson, C B; Nuoffer, J-M; Gallati, S; Levinger, L (2011). Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia. Mitochondrion, 11(3), pp. 488-96. Amsterdam: Elsevier 10.1016/j.mito.2011.01.005

2010

Kempná, Petra; Körner, Meike; Waser, Beatrice; Hofer, Gaby; Nuoffer, Jean-Marc; Reubi, Jean-Claude; Flück, Christa E. (2010). Neuropeptide Y modulates steroid production of human adrenal H295R cells through Y1 receptors. Molecular and cellular endocrinology, 314(1), pp. 101-109. Shannon: Elsevier Ireland 10.1016/j.mce.2009.08.010

Ben-Ari, Ziv; Dalal, Adam; Morry, Ady; Pitlik, Silvio; Zinger, Pierre; Cohen, Jonathan; Fattal, Ittai; Galili-Mosberg, Ronit; Tessler, Debora; Baruch, Ruth Gershoni; Nuoffer, Jean-Marc; Largiader, Carlo R; Mandel, Hanna (2010). Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins' diet. Journal of hepatology, 52(2), pp. 292-5. Amsterdam: Elsevier 10.1016/j.jhep.2009.11.014

Ballhausen, Diana; Guerry, Frédéric; Hahn, Dagmar; Schaller, André; Nuoffer, Jean-Marc; Bonafé, Luisa; Jeannet, Pierre-Yves; Jacquemont, Sebastien (2010). Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study. Journal of inherited metabolic disease, 33 Suppl 3, S219-S226. Lancaster, UK: Springer

Blau, Nenad; Bélanger-Quintana, Amaya; Demirkol, Mübeccel; Feillet, François; Giovannini, Marcello; MacDonald, Anita; Trefz, Friedrich K; van Spronsen, Francjan; Nuoffer, JM; European PKU centers, (2010). Management of phenylketonuria in Europe: survey results from 19 countries. Molecular genetics and metabolism, 99(2), pp. 109-15. Amsterdam: Elsevier 10.1016/j.ymgme.2009.09.005

2009

Simonetti, Giacomo D; Casaulta, Carmen; Vuissoz, Jean-Marc; Bianchetti, Mario G; Nuoffer, Jean-Marc (2009). Recurrent unexplained episodes of facial cyanosis and shortness of breath in Hunter disease. Journal of pediatrics, 155(1), 144, 144.e1. New York, N.Y.: Elsevier 10.1016/j.jpeds.2009.01.037

Kreis, R; Zwygart, K; Boesch, C; Nuoffer, J-M (2009). Reproducibility of cerebral phenylalanine levels in patients with phenylketonuria determined by 1H-MR spectroscopy. Magnetic resonance in medicine, 62(1), pp. 11-6. New York, N.Y.: Wiley-Liss 10.1002/mrm.21983

2008

Schild, Christof; Wermuth, Bendicht; Trapp-Chiappini, Daniela; Egger, Florence; Nuoffer, Jean-Marc (2008). Reliability of M protein quantification: comparison of two peak integration methods on Capillarys 2. Clinical chemistry and laboratory medicine, 46(6), pp. 876-7. Berlin: De Gruyter 10.1515/CCLM.2008.146

Engel, Katharina; Nuoffer, Jean-Marc; Mühlhausen, Chris; Klaus, Vera; Largiadèr, Carlo R; Tsiakas, Konstantinos; Santer, René; Wermuth, Bendicht; Häberle, Johannes (2008). Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency. Molecular genetics and metabolism, 94(3), pp. 292-7. Amsterdam: Elsevier 10.1016/j.ymgme.2008.03.009

2007

Scheidegger, U A; Flück, C E; Nuoffer, J M (2007). [Hypoglycemia in infancy -- not always of no importance!]. Praxis - schweizerische Rundschau für Medizin, 96(13), pp. 503-6. Bern: Huber

Samandari, Elika; Kempná, Petra; Nuoffer, Jean-Marc; Hofer, Gaby; Mullis, Primus E; Flück, Christa E (2007). Human adrenal corticocarcinoma NCI-H295R cells produce more androgens than NCI-H295A cells and differ in 3beta-hydroxysteroid dehydrogenase type 2 and 17,20 lyase activities. Journal of endocrinology, 195(3), pp. 459-72. Bristol: BioScientifica 10.1677/JOE-07-0166

Schlapbach, L J; Schütz, B; Nuoffer, J M; Brekenfeld, C; Müller, G; Fluri, S (2007). Floppy Baby mit makrozytärer Anämie und veganischer Mutter. Praxis - schweizerische Rundschau für Medizin, 96(35), pp. 1309-14. Bern: Huber

Heller, Manfred; Schlappritzi, Evelyn; Stalder, Daniel; Nuoffer, Jean-Marc; Haeberli, André (2007). Compositional protein analysis of high density lipoproteins in hypercholesterolemia by shotgun LC-MS/MS and probabilistic peptide scoring. Molecular & cellular proteomics, 6(6), pp. 1059-72. Bethesda, Md.: American Society for Biochemistry and Molecular Biology 10.1074/mcp.M600326-MCP200

Nagy, G R; Largiadèr, C R; Nuoffer, J-M; Nagy, B; Lázár, L; Papp, Z (2007). Novel mutation in OTC gene causes neonatal death in twin brothers. Journal of perinatology, 27(2), pp. 123-4. New York, N.Y.: Nature Publishing Group 10.1038/sj.jp.7211630

2006

Matter, Matthias; Odermatt, Bernhard; Yagita, Hideo; Nuoffer, Jean-Marc; Ochsenbein, Adrian F (2006). Elimination of chronic viral infection by blocking CD27 signaling. Journal of experimental medicine, 203(9), pp. 2145-55. New York, N.Y.: Rockefeller University Press 10.1084/jcm.20060651

Pavlovic, J; Nuoffer, JM; Schaller, A; Slotboom, J; Loennfors, T; Steinlin, M (2006). Blitz-Nick-Salaam-Krämpfe als Erstmanifestation einer mitochondrialen Störung. Epileptologie(2), pp. 66-70. Zürich: Schweizerische Liga gegen Epilepsie

Nuoffer, Jean-Marc (2006). Stoffwechselstörungen. In: Baumann, Thomas (ed.) Atlas der Entwicklungsdiagnostik (96ff). Stuttgart-New York/Athen: Thieme

2000

Nuoffer, Jean-Marc; Flück, Christa; Deladoëy, Johnny; Eblé, Andrée; Dattani, M T; Mullis, Primus-Eugen (2000). Regulation of human GH receptor gene transcription by 20 and 22 kDa GH in a human hepatoma cell line. Journal of endocrinology, 165(2), pp. 313-320. BioScientifica

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