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Mathis, Déborah; du Toit, Therina; Altinkilic, Emre Murat; Stojkov, Darko; Urzì, Christian; Voegel, Clarissa D; Wu, Vincen; Zamboni, Nicola; Simon, Hans-Uwe; Nuoffer, Jean-Marc; Flück, Christa E; Felser, Andrea (2024). Mitochondrial dysfunction results in enhanced adrenal androgen production in H295R cells. The journal of steroid biochemistry and molecular biology, 243(106561), p. 106561. Elsevier 10.1016/j.jsbmb.2024.106561
Breuss, Alexander; Strasser, Marco; Nuoffer, Jean-Marc; Klein, Andrea; Perret-Hoigné, Eveline; Felder, Christine; Stauffer, Ruth; Wolf, Peter; Riener, Robert; Gautschi, Matthias (2024). Nocturnal vestibular stimulation using a rocking bed improves a severe sleep disorder in a patient with mitochondrial disease. (In Press). Journal of sleep research, e14153. Wiley 10.1111/jsr.14153
Sousa, M; Maamari, B; Bremova, T; Nuoffer, J M; Wiest, R; Amstutz, D; Krack, P; Bartholdi, D; Tinkhauser, G (2024). Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62. Parkinsonism & related disorders, 120, p. 105460. Elsevier 10.1016/j.parkreldis.2023.105460
Meyer, Christoph; Hertig, Damian; Arnold, Janine; Urzì, Christian; Kurth, Sandra; Mayr, Johannes A; Schaller, André; Vermathen, Peter; Nuoffer, Jean-Marc (2024). Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by 1 H HR-MAS NMR. Journal of inherited metabolic disease, 47(2), pp. 270-279. Springer 10.1002/jimd.12696
Mathis, Déborah; Prost, Jean-Christophe; Maeder, Gabriela; Arackal, Liya; Zhang, Haoyue; Kurth, Sandra; Freiburghaus, Katrin; Nuoffer, Jean-Marc (2024). Specific GAG ratios in the diagnosis of mucopolysaccharidoses. JIMD reports, 65(2), pp. 116-123. Wiley 10.1002/jmd2.12412
Karafyllis, Ioannis; Nuoffer, Jean-Marc; Michelis, Joan-Philipp; Chilver-Stainer, Lara (2024). Untreated Classic Galactosemia: A Rare Cause of Adult-Onset Progressive Cerebellar Ataxia - A Case Report. Case reports in neurology, 16(1), pp. 55-62. Karger 10.1159/000536679
Urzì, Christian; Meyer, Christoph; Nuoffer, Jean-Marc; Vermathen, Peter (2023). Methods for Oxygen Determination in an NMR Bioreactor as a Surrogate Marker for Metabolomic Studies in Living Cell Cultures. Analytical chemistry, 95(48), pp. 17486-17493. American Chemical Society 10.1021/acs.analchem.3c02314
Vermathen, Martina; Kämpfer, Tobias; Nuoffer, Jean-Marc; Vermathen, Peter (2023). Intracellular Fate of the Photosensitizer Chlorin e4 with Different Carriers and Induced Metabolic Changes Studied by 1H NMR Spectroscopy. Pharmaceutics, 15(9) MDPI 10.3390/pharmaceutics15092324
Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias (2023). Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes. Molecular syndromology, 14(4), pp. 347-361. Karger 10.1159/000529306
Boy, Nikolas; Mühlhausen, Chris; Maier, Esther M; Ballhausen, Diana; Baumgartner, Matthias R; Beblo, Skadi; Burgard, Peter; Chapman, Kimberly A; Dobbelaere, Dries; Heringer-Seifert, Jana; Fleissner, Sandra; Grohmann-Held, Karina; Hahn, Gabriele; Harting, Inga; Hoffmann, Georg F; Jochum, Frank; Karall, Daniela; Konstantopoulous, Vassiliki; Krawinkel, Michael B; Lindner, Martin; ... (2023). Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: third revision. Journal of inherited metabolic disease, 46(3), pp. 482-519. Wiley 10.1002/jimd.12566
Bertschi, Nicole L; Steck, Oliver; Luther, Fabian; Bazzini, Cecilia; von Meyenn, Leonhard; Schärli, Stefanie; Vallone, Angela; Felser, Andrea; Keller, Irene; Friedli, Olivier; Freigang, Stefan; Begré, Nadja; Radonjic-Hoesli, Susanne; Lamos, Cristina; Gabutti, Max Philip; Benzaquen, Michael; Laimer, Markus; Simon, Dagmar; Nuoffer, Jean-Marc and Schlapbach, Christoph (2023). PPAR-γ regulates the effector function of human T helper 9 cells by promoting glycolysis. Nature Communications, 14(1), p. 2471. Springer Nature 10.1038/s41467-023-38233-x
Laemmle, Alexander; Poms, Martin; Hsu, Bernadette; Borsuk, Mariia; Rüfenacht, Véronique; Robinson, Joshua; Sadowski, Martin C.; Nuoffer, Jean-Marc; Häberle, Johannes; Willenbring, Holger (2022). Aquaporin 9 Induction in Human iPSC-derived Hepatocytes Facilitates Modeling of Ornithine Transcarbamylase Deficiency. Hepatology, 76(3), pp. 646-659. Wiley 10.1002/hep.32247
Bertschi, Nicole L; Steck, Oliver; Luther, Fabian; Bazzini, Cecilia; von Meyenn, Leonhard; Felser, Andrea; Keller, Irene; Friedli, Olivier; Freigang, Stefan; Begré, Nadja; Lamos, Cristina; Gabutti, Max Philip; Benzaquen, Michael; Laimer, Markus; Simon, Dagmar; Nuoffer, Jean-Marc; Schlapbach, Christoph (16 August 2022). PPAR-γ regulates the effector function of human TH9 cells by promoting glycolysis (bioRxiv). Cold Spring Harbor Laboratory 10.1101/2022.08.16.503972
Deng, Haibin; Gao, Yanyun; Trappetti, Verdiana; Hertig, Damian; Karatkevich, Darya; Losmanová, Tereza; Urzì, Christian; Ge, Huixiang; Geest, Gerrit Adriaan; Bruggmann, Remy; Djonov, Valentin; Nuoffer, Jean-Marc; Vermathen, Peter; Zamboni, Nicola; Riether, Carsten; Ochsenbein, Adrian; Peng, Ren-Wang; Kocher, Gregor Jan; Schmid, Ralph; Dorn, Patrick; ... (2022). Targeting lactate dehydrogenase B-dependent mitochondrial metabolism affects tumor initiating cells and inhibits tumorigenesis of non-small cell lung cancer by inducing mtDNA damage. Cellular and molecular life sciences, 79(8), p. 445. SP Birkhäuser Verlag Basel 10.1007/s00018-022-04453-5
Magyar, Benjamin P; Santi, Maristella; Sommer, Grit; Nuoffer, Jean-Marc; Leichtle, Alexander; Grössl, Michael; Fluck, Christa E (2022). Short-Term Fasting Attenuates Overall Steroid Hormone Biosynthesis in Healthy Young Women. Journal of the Endocrine Society, 6(7), bvac075. Oxford University Press 10.1210/jendso/bvac075
Melin, Nicolas; Yarahmadov, Tural; Sanchez-Taltavull, Daniel; Birrer, Fabienne E; Brodie, Tess M; Petit, Benoît; Felser, Andrea; Nuoffer, Jean-Marc; Montani, Matteo; Vozenin, Marie-Catherine; Herrmann, Evelyn; Candinas, Daniel; Aebersold, Daniel M; Stroka, Deborah (2022). A new mouse model of radiation-induced liver disease reveals mitochondrial dysfunction as an underlying fibrotic stimulus. JHEP reports, 4(7), p. 100508. Elsevier 10.1016/j.jhepr.2022.100508
Urzì, Christian; Hertig, Damian; Meyer, Christoph; Maddah, Sally; Nuoffer, Jean-Marc; Vermathen, Peter (2022). Determination of Intra- and Extracellular Metabolic Adaptations of 3D Cell Cultures upon Challenges in Real-Time by NMR. International journal of molecular sciences, 23(12), p. 6555. MDPI 10.3390/ijms23126555
Nava, Esmeralda; Hartmann, Britta; Boxheimer, Larissa; Capone Mori, Andrea; Nuoffer, Jean-Marc; Sargsyan, Yelena; Thoms, Sven; Rosewich, Hendrik; Boltshauser, Eugen (2022). How to Detect Isolated PEX10-Related Cerebellar Ataxia? Neuropediatrics, 53(3), pp. 159-166. Thieme 10.1055/s-0041-1741383
Gschwind, Markus; Garcia Segarra, Nuria; Schaller, André; Bolognini, Ramona; Nuoffer, Jean-Marc; Hourez, Raphael; Deprez, Manuel; Lhermitte, Benoit; Maeder, Philippe; Tran, Christel; Kuntzer, Thierry (2022). Early-onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid-forties patient. Annals of Clinical and Translational Neurology, 9(6), pp. 888-892. Wiley 10.1002/acn3.51556
Gavini, J; Leuenberger, D; Yarahmadov, T; Dommann, N; Keogh, A; Melin, N; Tschan, M; Nuoffer, J-M; Hertig, D; Zuber, B; Odriozola, A; Tombolini, R; Chrétien, M; Mbikay, M; Candinas, D; Stroka, D (2022). Intracellular Proprotein convertase subtilisin/kexin type 9: Recruitment and regulatory role in mitochondrial architecture and bioenergetic. British journal of surgery, 109(Supplement_3) Oxford University Press 10.1093/bjs/znac176.003
Laemmle, Alexander; Steck, Andrea Lisa; Schaller, André; Kurth, Sandra; Perret Hoigné, Eveline; Felser, Andrea Deborah; Slavova, Nedelina; Salvisberg, Claudia; Atencio, Mariana; Mochel, Fanny; Nuoffer, Jean-Marc; Gautschi, Matthias (2021). Triheptanoin - Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency. Molecular genetics and metabolism reports, 29, p. 100814. Elsevier 10.1016/j.ymgmr.2021.100814
Zaugg, Jonas; Ziegler, Fabian; Nuoffer, Jean-Marc; Moser-Hässig, Ruedi; Albrecht, Christiane (2021). Counter-directed leucine gradient promotes amino acid transfer across the human placenta. The journal of nutritional biochemistry, 96, p. 108760. Elsevier 10.1016/j.jnutbio.2021.108760
Hertig, Damian; Maddah, Sally; Memedovski, Roman; Kurth, Sandra; Moreno, Aitor; Pennestri, Matteo; Felser, Andrea; Nuoffer, Jean-Marc; Vermathen, Peter (2021). Live monitoring of cellular metabolism and mitochondrial respiration in 3D cell culture system using NMR spectroscopy. Analyst, 146(13), pp. 4326-4339. Royal Society of Chemistry 10.1039/d1an00041a
Yogarajah, J.; Gouveia, C.; Iype, J.; Häfliger, Stefanie; Schaller, A.; Nuoffer, J. M.; Fux, M.; Gautschi, M. (2021). Efficacy and safety of secukinumab for the treatment of severe ABCA12 deficiency‐related ichthyosis in a child. Skin health and disease, 1(2), e25. Wiley 10.1002/ski2.25
Illsinger, Sabine; Korenke, G Christoph; Boesch, Sylvia; Nocker, Michael; Karall, Daniela; Nuoffer, Jean M.; Laugwitz, Lucia; Mayr, Johannes A; Scholl-Bürgi, Sabine; Freisinger, Peter; Kowald, Tobias; Kölker, Stefan; Prokisch, Holger; Haack, Tobias B (2020). Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches. European journal of medical genetics, 63(11), p. 104046. Elsevier 10.1016/j.ejmg.2020.104046
Liu, He; He, Zhaoyue; Germič, Nina; Ademi, Hyrijie; Frangež, Živa; Felser, Andrea; Peng, Shuang; Riether, Carsten; Djonov, Valentin; Nuoffer, Jean-Marc; Bovet, Cédric; Mlinarič-Raščan, Irena; Zlobec, Inti; Fiedler, Georg; Perren, Aurel; Simon, Hans-Uwe (2020). ATG12 deficiency leads to tumor cell oncosis owing to diminished mitochondrial biogenesis and reduced cellular bioenergetics. Cell death and differentiation, 27(6), pp. 1965-1980. Springer Nature 10.1038/s41418-019-0476-5
Guarino, Maria; Kumar, Pavitra; Felser, Andrea; Terracciano, Luigi M; Guixé-Muntet, Sergi; Humar, Bostjan; Foti, Michelangelo; Nuoffer, Jean-Marc; St-Pierre, Marie V.; Dufour, Jean-François (2020). Exercise Attenuates the Transition from Fatty Liver to Steatohepatitis and Reduces Tumor Formation in Mice. Cancers, 12(6) MDPI AG 10.3390/cancers12061407
van der Kolk, J H; Thomas, S; Mach, N; Ramseyer, A.; Burger, D; Gerber, Vinzenz; Nuoffer, J.-M. (2020). Serum acylcarnitine profile in endurance horses with and without metabolic dysfunction. The veterinary journal, 255, p. 105419. Elsevier 10.1016/j.tvjl.2019.105419
Diez-Fernandez, Carmen; Hertig, Damian; Loup, Marc; Diserens, Gaëlle; Henry, Hugues; Vermathen, Peter; Nuoffer, Jean-Marc; Häberle, Johannes; Braissant, Olivier (2019). Argininosuccinate neurotoxicity and prevention by creatine in argininosuccinate lyase deficiency: an in vitro study in rat 3D organotypic brain cell cultures. Journal of inherited metabolic disease, 42(6), pp. 1077-1087. Wiley 10.1002/jimd.12090
Srinivasan, Raghuraman C; Zabulica, Mihaela; Hammarstedt, Christina; Wu, Tingting; Gramignoli, Roberto; Kannisto, Kristina; Ellis, Ewa; Karadagi, Ahmad; Fingerhut, Ralph; Allegri, Gabriella; Rüfenacht, Véronique; Thöny, Beat; Häberle, Johannes; Nuoffer, Jean-Marc; Strom, Stephen C (2019). A liver-humanized mouse model of carbamoyl phosphate synthetase 1-deficiency. Journal of inherited metabolic diseases, 42(6), pp. 1054-1063. Wiley 10.1002/jimd.12067
Allegri, Gabriella; Deplazes, Sereina; Rimann, Nicole; Causton, Benjamin; Scherer, Tanja; Leff, Jonathan W; Diez-Fernandez, Carmen; Klimovskaia, Anna; Fingerhut, Ralph; Krijt, Jakub; Kožich, Viktor; Nuoffer, Jean-Marc; Grisch-Chan, Hiu M; Thöny, Beat; Häberle, Johannes (2019). Comprehensive characterization of ureagenesis in the spfash mouse, a model of human ornithine transcarbamylase deficiency, reveals age-dependency of ammonia detoxification. Journal of inherited metabolic diseases, 42(6), pp. 1064-1076. Wiley 10.1002/jimd.12068
Poliaková, Michaela; Felser, Andrea; Pierzchala, Katarzyna; Nuoffer, Jean-Marc; Aebersold, Daniel; Zimmer, Yitzhak; Zamboni, Nicola; Medova, Michaela (2019). Metabolomics reveals tepotinib-related mitochondrial dysfunction in MET activating mutations-driven models. FEBS journal, 286(14), pp. 2692-2710. Wiley-Blackwell 10.1111/febs.14852
Stocker, Rahel Kristina; Reber Aubry, Emilie; Bally, Lilly; Nuoffer, Jean-Marc; Stanga, Zeno (2019). [Ketogenic Diet and its Evidence-Based Therapeutic Implementation in Endocrine Diseases]. Praxis, 108(8), pp. 541-553. Hogrefe 10.1024/1661-8157/a003246
Hertig, Damian; Felser, Andrea; Diserens, Gaëlle; Kurth, Sandra; Vermathen, Peter; Nuoffer, Jean-Marc (2019). Correction to: Selective galactose culture condition reveals distinct metabolic signatures in pyruvate dehydrogenase and complex I deficient human skin fibroblasts. Metabolomics, 15(4), p. 49. Springer 10.1007/s11306-019-1509-2
Hertig, Damian; Felser, Andrea; Diserens, Gaëlle; Kurth, Sandra; Vermathen, Peter; Nuoffer, Jean-Marc (2019). Selective galactose culture condition reveals distinct metabolic signatures in pyruvate dehydrogenase and complex I deficient human skin fibroblasts. Metabolomics, 15(3), p. 32. Springer 10.1007/s11306-019-1497-2
Korner, Mirjam; Kälin, Sonja; Zweifel-Zehnder, Antoinette; Fankhauser, Niklaus; Nuoffer, Jean-Marc; Gautschi, Matthias (2019). Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia. Orphanet journal of rare diseases, 14(1), p. 56. BioMed Central 10.1186/s13023-019-0999-3
Jackson, Christopher; 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), pp. 639-649. Oxford University Press 10.1093/hmg/ddy374
Kasapkara, Çigdem Seher; Nuoffer, Jean Marc; Baysoy, Gökhan; Aldudak, Bedri; Özbek, Mehmet Nuri; Akcaboy, Meltem; Largiadèr, Carlo R. (2019). Lethal Very Long-Chain Acyl-Coa Dehydrogenase Deficiency with A Novel Mutation. Gazi medical journal, 30(3), pp. 323-324. Gazi University Faculty of Medicine 10.12996/GMJ.2019.83
Zaugg, Jonas; Ziegler, Fabian; Nuoffer, Jean-Marc; Moser-Hässig, Ruedi; Albrecht, Christiane (2019). EFFICIENT LEUCINE TRANSPORT ACROSS THE PLACENTAL BARRIER DEPENDS ON PHYSIOLOGICAL, OPPOSITELY DIRECTED LEUCINE GRADIENTS. Placenta, 83, e113-e113. Elsevier
Rajasekaran, Raviprasadh; Felser, Andrea; Nuoffer, Jean-Marc; Dufour, Jean-François; St-Pierre, Marie (2018). The histidine triad nucleotide-binding protein 2 (HINT-2) positively regulates hepatocellular energy metabolism. FASEB journal, 32(9), pp. 5143-5161. Federation of American Societies for Experimental Biology 10.1096/fj.201701429R
Tran, Christel; Bonafé, Luisa; Nuoffer, Jean-Marc; Rieger, Julie; Berger, Mette M. (2018). Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management. Clinical nutrition, 37(4), pp. 1114-1120. Elsevier 10.1016/j.clnu.2017.07.013
Amini, Poorya; Stojkov, Darko; Felser, Andrea; Jackson, Christopher B; Courage, Carolina; Schaller, André; Gelman, Laurent; Soriano, Maria Eugenia; Nuoffer, Jean-Marc; Scorrano, Luca; Benarafa, Charaf; Yousefi, Shida; Simon, Hans-Uwe (2018). Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production. Nature communications, 9(1), p. 2958. Nature Publishing Group 10.1038/s41467-018-05387-y
Aubry, Emilie; Aeberhard, Carla; Bally, Lia; Nuoffer, Jean-Marc; Risch, Lorenz; Mühlebach, Stefan; Burgunder, Jean-Marc; Stanga, Zeno (2018). Are patients affected by mitochondrial disorders at nutritional risk? Nutrition, 47, pp. 56-62. Elsevier 10.1016/j.nut.2017.09.011
Pop, Ana; Williams, Monique; Struys, Eduard A.; Monné, Magnus; Jansen, Erwin E. W.; De Grassi, Anna; Kanhai, Warsha A.; Scarcia, Pasquale; Ojeda, Matilde R. Fernandez; Porcelli, Vito; van Dooren, Silvy J. M.; Lennertz, Pascal; Nota, Benjamin; Abdenur, Jose E.; Coman, David; Das, Anibh Martin; El-Gharbawy, Areeg; Nuoffer, Jean-Marc; Polic, Branka; Santer, René; ... (2018). An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants. Journal of inherited metabolic disease, 41(2), pp. 169-180. Springer 10.1007/s10545-017-0106-7
Hilmenyuk, Tamara; Ruckstuhl, Carla A.; Hayoz, Michael; Berchtold, Christian; Nuoffer, Jean-Marc; Solanki, Shyam; Keun, Hector C.; Beavis, Paul A.; Riether, Carsten; Ochsenbein, Adrian F. (2018). T cell inhibitory mechanisms in a model of aggressive Non-Hodgkin's Lymphoma. Oncoimmunology, 7(1), e1365997. Landes Bioscience 10.1080/2162402x.2017.1365997
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), p. 184. BioMed Central 10.1186/s13023-017-0740-z
Udhane, Sameer Sopanrao; Legeza, Balazs; Marti, Nesa Magdalena; Hertig, Damian; Diserens, Gaëlle; Nuoffer, Jean-Marc; Vermathen, Peter; Flück, Christa E (2017). Combined transcriptome and metabolome analyses of metformin effects reveal novel links between metabolic networks in steroidogenic systems. Scientific Reports, 7(1), p. 8652. Nature Publishing Group 10.1038/s41598-017-09189-y
Jackson, Christopher B; Hahn, Dagmar; Schröter, Barbara; Richter, Uwe; Battersby, Brendan J; Schmitt-Mechelke, Thomas; Marttinen, Paula; Nuoffer, Jean-Marc; Schaller, André (2017). A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy. European journal of medical genetics, 60(6), pp. 345-351. Elsevier 10.1016/j.ejmg.2017.04.006
Diserens, G; Hertig, Damian; Vermathen, Martina; Legeza, Balázs; Flück Pandey, Christa Emma; Nuoffer, Jean-Marc; Vermathen, Peter (2017). Metabolic stability of cells for extended metabolomical measurements using NMR. A comparison between lysed and additionally heat inactivated cells. Analyst, 142(3), pp. 465-471. Royal Society of Chemistry 10.1039/c6an02195f
Tran, Christel; Serratrice, Jacques; Nuoffer, Jean-Marc; Schaller, André; 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), pp. 159-163. Médecine & Hygiène
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
Wortmann, Saskia; Mayr, Johannes; Nuoffer, Jean-Marc; Prokisch, Holger; Sperl, Wolfgang (2017). A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era. Neuropediatrics, 48(04), pp. 309-314. Thieme 10.1055/s-0037-1603776
Ducray, Angélique; Felser, Andrea Debora; Zielinski, Jana; Bittner, Aniela; Bürgi, Julia Verena; Nuoffer, Jean-Marc; Frenz, Martin; Mevissen, Meike (2017). Effects of silica nanoparticle exposure on mitochondrial function during neuronal differentiation. Journal of nanobiotechnology, 15(1), p. 49. BioMed Central 10.1186/s12951-017-0284-3
Bally, Lia; Bovet, Cédric; Nakas, Christos T.; Zueger, Thomas; Prost, Jean-Christophe; Nuoffer, Jean-Marc; Leichtle, Alexander Benedikt; Fiedler, Georg Martin; Stettler, Christoph (2017). A metabolomics approach to uncover effects of different exercise modalities in type 1 diabetes. Metabolomics, 13(7) Springer 10.1007/s11306-017-1217-8
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.
Inauen, Corinne; Rüfenacht, Véronique; Pandey, Amit Vikram; 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), pp. 125-133. Springer 10.1007/s40291-015-0182-z
Schild, Christof; Nuoffer, Jean-Marc; Egger, Florence (2016). Diagnostik monoklonaler Gammopathien: Analytische Fallstricke und Interferenzen. Pipette - Swiss laboratory medicine, 2016(1), pp. 9-11. EMH Schweizerischer Ärzteverlag AG
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
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. Wiley 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
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
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 10.1007/s10545-013-9624-0
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
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 Netherlands 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
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. 1217-1219. Berlin: Walter 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
Kempná, Petra; Körner, Meike; Waser, Beatrice; Hofer, Gaby; Nuoffer, Jean-Marc; Reubi, J.C.; 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
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
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. 876-877. Berlin: Walter 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
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
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
Nuoffer, Jean-Marc; Mullis, P. E. (2005). Hypoglykämien – Diagnostik und Therapie im Notfall. Therapeutische Umschau, 62(8), pp. 543-548. Huber 10.1024/0040-5930.62.8.543
Schmidt, Eva; Nuoffer, Jean-Marc; Häberle, Johannes; Pauli, Silke; Guffon, Nathalie; Vianey-Saban, Christine; Wermuth, Bendicht; Koch, Hans Georg (2005). Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies. Biochimica et biophysica acta - molecular basis of disease, 1740(1), pp. 54-59. Elsevier 10.1016/j.bbadis.2005.02.006
Landolt, Markus A.; Nuoffer, Jean-Marc; Steinmann, Beat; Superti-Furga, Andrea (2002). Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal. Journal of pediatrics, 140(5), pp. 516-521. Elsevier 10.1067/mpd.2002.123663
Truttmann, Anita C.; Faraone, Rita; von Vigier, Rodo O.; Nuoffer, Jean-Marc; Pfister, Roger; Bianchetti, Mario G. (2002). Maintenance Hemodialysis and Circulating Ionized Magnesium. Nephron, 92(3), pp. 616-621. Karger 10.1159/000064109
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
Nuoffer, Jean-Marc; de Lonlay, P.; Costa, C.; Roe, C. R.; Chamoles, N.; Brivet, M.; Saudubray, J. M. (2000). Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency. European journal of pediatrics, 159(1-2), pp. 82-85. Springer 10.1007/pl00013810
Megnien, J.-L.; Gariepy, J.; Saudubray, J.-M.; Nuoffer, Jean-Marc; Denarie, N.; Levenson, J.; Simon, A. (1998). Evidence of Carotid Artery Wall Hypertrophy in Homozygous Homocystinuria. Circulation, 98(21), pp. 2276-2281. Lippincott Williams & Wilkins 10.1161/01.cir.98.21.2276
Pedrozzi, Nicola E.; Truttmann, Anita C.; Faraone, Rita; Descoeudres, Claude E.; Wermuth, Bendicht; Lüthy, Christa M.; Nuoffer, Jean-Marc; Frey, Felix; Bianchetti, Mario Giovanni (1998). Circulating Ionized and Total Magnesium in End-Stage Kidney Disease. Nephron, 79(3), pp. 288-292. Karger 10.1159/000045051
Nuoffer, Jean-Marc; Mullis, P. E.; Wiesmann, U. N. (1997). Treatment with low-dose diazoxide in two growth-retarded prepubertal girls with glycogen storage disease type Ia resulted in catch-up growth. Journal of inherited metabolic disease, 20(6), pp. 790-798. Kluwer Academic Publishers 10.1023/a:1005319818015
Mullis, Primus-Eugen; Wagner, Johannes K; Eblé, Andrée; Nuoffer, Jean-Marc; Postel-Vinay, Marie-Catherine (1997). Regulation of human growth hormone receptor gene transcription by human growth hormone binding protein. Molecular and cellular endocrinology, 131(1), pp. 89-96. Elsevier Ireland 10.1016/s0303-7207(97)00096-8
Nuoffer, Jean-Marc; Pfammatter, Jean-Pierre; Spahr, A.; Toplak, H.; Wanders, R. J. A.; Schutgens, R. B. H.; Wiesmann, U. N. (1994). Chondrodysplasia punctata with a mild clinical course. Journal of inherited metabolic disease, 17(1), pp. 60-66. Springer 10.1007/bf00735395
