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Nuoffer Jean-Marc
Nuoffer Jean-Marc
在 insel.ch 的电子邮件经过验证
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引用次数
引用次数
年份
Serum amino acid profiles and their alterations in colorectal cancer
AB Leichtle, JM Nuoffer, U Ceglarek, J Kase, T Conrad, H Witzigmann, ...
Metabolomics 8, 643-653, 2012
1552012
Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production
P Amini, D Stojkov, A Felser, CB Jackson, C Courage, A Schaller, ...
Nature communications 9 (1), 2958, 2018
1462018
Elimination of chronic viral infection by blocking CD27 signaling
M Matter, B Odermatt, H Yagita, JM Nuoffer, AF Ochsenbein
The Journal of experimental medicine 203 (9), 2145-2155, 2006
1392006
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2-and L-2-hydroxyglutaric aciduria
B Nota, EA Struys, A Pop, EE Jansen, MRF Ojeda, WA Kanhai, ...
The American Journal of Human Genetics 92 (4), 627-631, 2013
1372013
Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal
MA Landolt, JM Nuoffer, B Steinmann, A Superti-Furga
The Journal of pediatrics 140 (5), 516-521, 2002
1262002
Deficiency of ECHS 1 causes mitochondrial encephalopathy with cardiac involvement
TB Haack, CB Jackson, K Murayama, LS Kremer, A Schaller, ...
Annals of clinical and translational neurology 2 (5), 492-509, 2015
1112015
Metformin inhibits human androgen production by regulating steroidogenic enzymes HSD3B2 and CYP17A1 and complex I activity of the respiratory chain
A Hirsch, D Hahn, P Kempná, G Hofer, JM Nuoffer, PE Mullis, CE Flück
Endocrinology 153 (9), 4354-4366, 2012
1042012
Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency
CB Jackson, JM Nuoffer, D Hahn, H Prokisch, B Haberberger, M Gautschi, ...
Journal of medical genetics 51 (3), 170-175, 2014
992014
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders
CM Rüegger, M Lindner, D Ballhausen, MR Baumgartner, S Beblo, A Das, ...
Journal of inherited metabolic disease 37, 21-30, 2014
942014
A guideline for the diagnosis of pediatric mitochondrial disease: the value of muscle and skin biopsies in the genetics era
SB Wortmann, JA Mayr, JM Nuoffer, H Prokisch, W Sperl
Neuropediatrics 48 (04), 309-314, 2017
792017
Inflammation and atrial remodeling after a mountain marathon
M Wilhelm, T Zueger, S De Marchi, SF Rimoldi, N Brugger, R Steiner, ...
Scandinavian journal of medicine & science in sports 24 (3), 519-525, 2014
722014
Copeptin concentration in cord blood in infants with early-onset sepsis, chorioamnionitis and perinatal asphyxia
LJ Schlapbach, S Frey, S Bigler, C Manh-Nhi, C Aebi, M Nelle, JM Nuoffer
BMC pediatrics 11, 1-8, 2011
692011
Frequency and pathophysiology of acute liver failure in ornithine transcarbamylase deficiency (OTCD)
A Laemmle, RC Gallagher, A Keogh, T Stricker, M Gautschi, JM Nuoffer, ...
PLoS One 11 (4), e0153358, 2016
622016
Human adrenal corticocarcinoma NCI-H295R cells produce more androgens than NCI-H295A cells and differ in 3-hydroxysteroid dehydrogenase type 2 and 17, 20 lyase activities
E Samandari, P Kempná, JM Nuoffer, G Hofer, PE Mullis, CE Flück
J Endocrinol 195 (3), 459-472, 2007
592007
Evidence of carotid artery wall hypertrophy in homozygous homocystinuria
JL Megnien, J Gariepy, JM Saudubray, JM Nuoffer, N Denarie, ...
Circulation 98 (21), 2276-2281, 1998
571998
Compositional Protein Analysis of High Density Lipoproteins in Hypercholesterolemia by Shotgun LC-MS/MS and Probabilistic Peptide Scoring* S
M Heller, E Schlappritzi, D Stalder, JM Nuoffer, A Haeberli
Molecular & Cellular Proteomics 6 (6), 1059-1072, 2007
562007
Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins’ diet
Z Ben-Ari, A Dalal, A Morry, S Pitlik, P Zinger, J Cohen, I Fattal, ...
Journal of hepatology 52 (2), 292-295, 2010
542010
Mutations and Polymorphisms in the Human Argininosuccinate Lyase (ASL) Gene
C Balmer, AV Pandey, V Rüfenacht, JM Nuoffer, P Fang, LJ Wong, ...
Human mutation 35 (1), 27-35, 2014
512014
Reliability of M protein quantification: comparison of two peak integration methods on Capillarys 2
C Schild, B Wermuth, D Trapp-Chiappini, F Egger, JM Nuoffer
Clinical chemistry and laboratory medicine 46 (6), 876-877, 2008
512008
Pancreatic carcinoma, pancreatitis, and healthy controls: metabolite models in a three-class diagnostic dilemma
AB Leichtle, U Ceglarek, P Weinert, CT Nakas, JM Nuoffer, J Kase, ...
Metabolomics 9, 677-687, 2013
502013
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