PD Dr. med. Jean-Marc Nuoffer - Stoffwechselerkrankung, Bern - Publikationen

Nota B, Struys EA, Pop A, Jansen EE, Fernandez Ojeda MR, Kanhai WA, Kranendijk, M, van Dooren SJ, Bevova MR, Sistermans EA, Nieuwint AW, Barth M, Ben-Omran T,, Hoffmann GF, de Lonlay P, McDonald MT, Meberg A, Muntau AC, Nuoffer JM, Parini R,, Read MH, Renneberg A, Santer R, Strahleck T, van Schaftingen E, van der Knaap MS, Jakobs C, Salomons GS. Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. Am J Hum Genet. 2013 Apr 4;92(4):627-31.

Gautschi M, Pavlovic M, Nuoffer JM. Fatal myocardial infarction at 4.5 years in a case of homozygous familial hypercholesterolaemia. JIMD Rep. 2012;2:45-50.

Wilhelm M, Zueger T, De Marchi S, Rimoldi SF, Brugger N, Steiner R, Stettler C, Nuoffer JM, Seiler C, Ith M. Inflammation and atrial remodeling after a mountain marathon. Scand J Med Sci Sports. 2012 Dec 18.

Leichtle AB, Nuoffer JM, Ceglarek U, Kase J, Conrad T, Witzigmann H, Thiery J,Fiedler GM. Serum amino acid profiles and their alterations in colorectal cancer. Metabolomics. 2012 Aug;8(4):643-653. Epub 2011 Sep 16.

Hirsch A, Hahn D, Kempná P, Hofer G, Nuoffer JM, Mullis PE, Flück CE.
Metformin inhibits human androgen production by regulating steroidogenic enzymes HSD3B2 and CYP17A1 and complex I activity of the respiratory chain.
Endocrinology. 2012 Sep;153(9):4354-66.

Nava E, Weber P, Gautschi M, Nuoffer JM, Grunt S. Botulinum toxin type A for the treatment of equinus deformity in patients with mucopolysaccharidosis type II. J Child Neurol. 2012 Dec;27(12):1611-5.

Hirsch A, Hahn D, Kempná P, Hofer G, Mullis PE, Nuoffer JM, Flück CE. Role of AMP-activated protein kinase on steroid hormone biosynthesis in adrenal NCI-H295R cells. PLoS One. 2012;7(1)

Wilhelm M, Nuoffer JM, Schmid JP, Wilhelm I, Saner H. Comparison of pro-atrial natriuretic peptide and atrial remodeling in marathon versus non-marathon runners. Am J Cardiol. 2012 Apr 1;109(7):1060-5.

Engel K, Vuissoz JM, Eggimann S, Groux M, Berning C, Hu L, Klaus V, Moeslinger D, Mercimek-Mahmutoglu S, Stöckler S, Wermuth B, Häberle J, Nuoffer JM. Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria. J Inherit Metab Dis. 2012 Jan;35(1):133-40.

Schlapbach LJ, Frey S, Bigler S, Manh-Nhi C, Aebi C, Nelle M, Nuoffer JM.
Copeptin concentration in cord blood in infants with early-onset sepsis,
chorioamnionitis and perinatal asphyxia. BMC Pediatr. 2011 May 19;11:38.

Schild C, Egger F, Kaelin A, Nuoffer JM. Monoclonal gammopathy missed by capillary zone electrophoresis. Clin Chem Lab Med. 2011 Jul;49(7):1217-9.

Maalouf NM, Adams Huet B, Pasch A, Lieske JC, Asplin JR, Siener R, Hesse A,
Nuoffer JM, Frey FJ, Knight J, Holmes RP, Zerwekh JE, Bonny O. Variability in urinary oxalate measurements between six international laboratories. Nephrol Dial Transplant. 2011 Dec;26(12):3954-9.

Schaller A, Desetty R, Hahn D, Jackson CB, Nuoffer JM, Gallati S, Levinger L. Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia. Mitochondrion. 2011 May;11(3):488-96.

Schaller A, Hahn D, Jackson CB, Kern I, Chardot C, Belli DC, Gallati S,
Nuoffer JM. Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome. BMC Neurol. 2011 Jan 14;11:4.

Boss A, Kreis R, Jenni S, Ith M, Nuoffer JM, Christ E, Boesch C, Stettler C. 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. 2011 Jan;34(1):220-2.

Ballhausen D, Guerry F, Hahn D, Schaller A, Nuoffer JM, Bonafé L, Jeannet PY, Jacquemont S. Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study. J Inherit Metab Dis. 2010 May 11.

Ben-Ari Z, Dalal A, Morry A, Pitlik S, Zinger P, Cohen J, Fattal I,
Galili-Mosberg R, Tessler D, Baruch RG, Nuoffer JM, Largiader CR, Mandel H.
Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins'diet. J Hepatol. 2010 Feb;52(2):292-5.

Blau N, Bélanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen F; European PKU centers. Management of phenylketonuria in Europe: survey results from 19 countries. Mol Genet Metab. 2010 Feb;99(2):109-15.

Kempná P, Körner M, Waser B, Hofer G, Nuoffer JM, Reubi JC, Flück CE.
Neuropeptide Y modulates steroid production of human adrenal H295R cells through Y1 receptors. Mol Cell Endocrinol. 2010 Jan 15;314(1):101-9.

Simonetti GD, Casaulta C, Vuissoz JM, Bianchetti MG, Nuoffer JM. Recurrent
unexplained episodes of facial cyanosis and shortness of breath in Hunter
disease. J Pediatr. 2009 Jul;155(1):144.

Kreis R, Zwygart K, Boesch C, Nuoffer JM. Reproducibility of cerebral
phenylalanine levels in patients with phenylketonuria determined by 1H-MR
spectroscopy. Magn Reson Med. 2009 Jul;62(1):11-6.

Schild C, Wermuth B, Trapp-Chiappini D, Egger F, Nuoffer JM. Reliability of M protein quantification: comparison of two peak integration methods on Capillarys 2. Clin Chem Lab Med. 2008;46(6):876-7.

Engel K, Nuoffer JM, Mühlhausen C, Klaus V, Largiadèr CR, Tsiakas K, Santer
R, Wermuth B, Häberle J. Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency. Mol Genet Metab. 2008

Schlapbach LJ, Schütz B, Nuoffer JM, Brekenfeld C, Müller G, Fluri S. [Floppy baby with macrocytic anemia and vegan mother]. Praxis (Bern 1994). 2007 Aug

Samandari E, Kempná P, Nuoffer JM, Hofer G, Mullis PE, Flück CE. 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. J Endocrinol. 2007 Dec;195(3):459-72.

Scheidegger UA, Flück CE, Nuoffer JM. [Hypoglycemia in infancy -- not always of no importance!]. Praxis (Bern 1994). 2007 Mar 28;96(13):503-6.

Heller M, Schlappritzi E, Stalder D, Nuoffer JM, Haeberli A. Compositional
protein analysis of high density lipoproteins in hypercholesterolemia by shotgun LC-MS/MS and probabilistic peptide scoring. Mol Cell Proteomics. 2007Jun;6(6):1059-72.

Nagy GR, Largiadèr CR, Nuoffer JM, Nagy B, Lázár L, Papp Z. Novel mutation in OTC gene causes neonatal death in twin brothers. J Perinatol. 2007

Matter M, Odermatt B, Yagita H, Nuoffer JM, Ochsenbein AF. Elimination of
chronic viral infection by blocking CD27 signaling. J Exp Med. 2006 Sep

Nuoffer JM, Mullis PE. [Hypoglycaemia--diagnosis and therapy in emergencies]. Ther Umsch. 2005 Aug;62(8):543-8.

Schmidt E, Nuoffer JM, Häberle J, Pauli S, Guffon N, Vianey-Saban C, Wermuth B, Koch HG. Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies. Biochim Biophys Acta. 2005 Apr 15;1740(1):54-9.

Flück CE, Slotboom J, Nuoffer JM, Kreis R, Boesch C, Mullis PE. Normal
hepatic glycogen storage after fasting and feeding in children and adolescents with type 1 diabetes. Pediatr Diabetes. 2003 Jun;4(2):70-6.

Truttmann AC, Faraone R, Von Vigier RO, Nuoffer JM, Pfister R, Bianchetti MG. Maintenance hemodialysis and circulating ionized magnesium. Nephron.

Landolt MA, Nuoffer JM, Steinmann B, Superti-Furga A. Quality of life and
psychologic adjustment in children and adolescents with early treated
phenylketonuria can be normal. J Pediatr. 2002 May;140(5):516-21

Nuoffer JM. [Visual diagnoses in pediatrics. Xanthomas]. Praxis (Bern 1994). 2001 Aug 16;90(33):1337-8. German..

Nuoffer JM, Flück C, Deladoëy J, Eblé A, Dattani MT, Mullis PE. Regulation of human GH receptor gene transcription by 20 and 22 kDa GH in a human hepatoma cell line. J Endocrinol. 2000 May;165(2):313-20.

Nuoffer JM, de Lonlay P, Costa C, Roe CR, Chamoles N, Brivet M, Saudubray JM. Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency. Eur J Pediatr. 2000 Jan-Feb;159(1-2):82-5.

Costa C, Costa JM, Nuoffer JM, Slama A, Boutron A, Saudubray JM, Legrand A,
Brivet M. Identification of the molecular defect in a severe case of
carnitine-acylcarnitine carrier deficiency. J Inherit Metab Dis. 1999

Nuoffer JM, Zenklusen JM, Pfammatter JP, Wiesmann UN, Bianchetti MG. Weekly
versus biweekly lipid removal and effect of statins in severe
hypercholesterolemia. Am J Ther. 1998 Nov;5(6):393-7.

Saudubray JM, Nuoffer JM, de Lonlay P, Castelnau P, Touati G. [Hereditary
metabolic diseases in adults]. Rev Med Interne. 1998;19 Suppl 3:366S-375S.

Megnien JL, Gariepy J, Saudubray JM, Nuoffer JM, Denarie N, Levenson J, Simon A. Evidence of carotid artery wall hypertrophy in homozygous homocystinuria. Circulation. 1998 Nov 24;98(21):2276-81.

Pedrozzi NE, Truttmann AC, Faraone R, Descoeudres CE, Wermuth B, Lüthy CM,
Nuoffer JM, Frey FJ, Bianchetti MG. Circulating ionized and total magnesium in end-stage kidney disease. Nephron. 1998;79(3):288-92.

Nuoffer JM, Mullis PE, Wiesmann UN. Treatment with low-dose diazoxide in two growth-retarded prepubertal girls with glycogen storage disease type Ia resulted in catch-up growth. J Inherit Metab Dis. 1997 Nov;20(6):790-8.

Mullis PE, Wagner JK, Eblé A, Nuoffer JM, Postel-Vinay MC. Regulation of
human growth hormone receptor gene transcription by human growth hormone binding protein. Mol Cell Endocrinol. 1997 Jul 4;131(1):89-96.

Nuoffer JM, Kuhlmann B, Hodler C, Mullis PE. [Eating behavior, diabetes and
weight control in girls with insulin-dependent diabetes mellitus (type 1)].
Schweiz Med Wochenschr. 1996 Sep 14;126(37):1560-5.

Nuoffer JM, Pfammatter JP, Spahr A, Toplak H, Wanders RJ, Schutgens RB,
Wiesmann UN. Chondrodysplasia punctata with a mild clinical course. J Inherit Metab Dis. 1994;17(1):60-6.