List of works by Jean-Marc Nuoffer

A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era

article

A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy

scientific article published on 12 April 2017

A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly

scientific article published on 13 November 2015

Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management

scientific article

Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins' diet

scientific article

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.

scientific article

Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency

scientific article published on 25 April 2008

Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria

scientific article published on 11 June 2011

Botulinum toxin type A for the treatment of equinus deformity in patients with mucopolysaccharidosis type II.

scientific article published on 20 March 2012

Chondrodysplasia punctata with a mild clinical course

scientific article published on 01 January 1994

Circulating ionized and total magnesium in end-stage kidney disease

scientific article published on 01 January 1998

Combined transcriptome and metabolome analyses of metformin effects reveal novel links between metabolic networks in steroidogenic systems.

scientific article

Comparison of pro-atrial natriuretic peptide and atrial remodeling in marathon versus non-marathon runners

scientific article published on 3 January 2012

Compositional protein analysis of high density lipoproteins in hypercholesterolemia by shotgun LC-MS/MS and probabilistic peptide scoring

scientific article published on 5 March 2007

Copeptin concentration in cord blood in infants with early-onset sepsis, chorioamnionitis and perinatal asphyxia.

scientific article

Correction to: Selective galactose culture condition reveals distinct metabolic signatures in pyruvate dehydrogenase and complex I deficient human skin fibroblasts

scientific article published on 19 March 2019

Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria

scientific article

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

scientific article

Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.

scientific article

Effect of Cysteamine on Mutant ASL Proteins with Cysteine for Arginine Substitutions

scientific article published on 01 April 2016

Effects of endurance training on skeletal muscle mitochondrial function in Huntington disease patients

scientific article published on 19 December 2017

Effects of silica nanoparticle exposure on mitochondrial function during neuronal differentiation

scientific article

Elimination of chronic viral infection by blocking CD27 signaling.

scientific article

Evidence of carotid artery wall hypertrophy in homozygous homocystinuria

scientific article published on 01 November 1998

Exercise Attenuates the Transition from Fatty Liver to Steatohepatitis and Reduces Tumor Formation in Mice

scientific article published on 29 May 2020

Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency

scientific article published on 01 January 2000

Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation

scientific article published on 24 January 2015

Fatal myocardial infarction at 4.5 years in a case of homozygous familial hypercholesterolaemia

scientific article

Floppy baby with macrocytic anemia and vegan mother

scientific article

Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD)

scientific article

Highly efficient ketone body treatment in multiple acyl-CoA dehydrogenase deficiency-related leukodystrophy

scientific article published on 7 October 2014

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

scientific article published on December 2007

Hypoglycaemia--diagnosis and therapy in emergencies

scientific article published in August 2005

Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies

scientific article published on 24 February 2005

Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency

scientific article published on 01 May 1999

Inflammation and atrial remodeling after a mountain marathon

scientific article published on 18 December 2012

Integration of adult patients with phenylketonuria into professional life: long-term follow-up of 27 patients in a single centre in Switzerland

scientific article published on 23 December 2014

Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin.

scientific article published on 25 February 2014

Maintenance hemodialysis and circulating ionized magnesium

scientific article published on 01 January 2002

Metabolic stability of cells for extended metabolomical measurements using NMR. A comparison between lysed and additionally heat inactivated cells

scientific article published on 11 January 2017

Metformin inhibits human androgen production by regulating steroidogenic enzymes HSD3B2 and CYP17A1 and complex I activity of the respiratory chain

scientific article

Mitochondrial leucine tRNA level and PTCD1 are regulated in response to leucine starvation

article

Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study

scientific article published on 11 May 2010

Monoclonal gammopathy missed by capillary zone electrophoresis

scientific article published on 17 May 2011

Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene

scientific article published on 25 November 2013

Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency

scientific article published on 23 December 2013

Neuropeptide Y modulates steroid production of human adrenal H295R cells through Y1 receptors

scientific article

Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production

scientific article published in Nature Communications

Normal hepatic glycogen storage after fasting and feeding in children and adolescents with type 1 diabetes

scientific article

Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype

scientific article

Novel mutation in OTC gene causes neonatal death in twin brothers.

scientific article published in February 2007

Pancreatic carcinoma, pancreatitis, and healthy controls: metabolite models in a three-class diagnostic dilemma

scientific article published on 6 November 2012

Partial expression of ornithine transcarbamylase deficiency in an Egyptian female carrier.

scientific article published on 31 October 2013

Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal

scientific article published in May 2002

Recurrent unexplained episodes of facial cyanosis and shortness of breath in Hunter disease

scientific article published on 01 July 2009

Regulation of human GH receptor gene transcription by 20 and 22 kDa GH in a human hepatoma cell line

scientific article

Regulation of human growth hormone receptor gene transcription by human growth hormone binding protein

scientific article published on July 1997

Reliability of M protein quantification: comparison of two peak integration methods on Capillarys 2

scientific article published on 01 January 2008

Reproducibility of cerebral phenylalanine levels in patients with phenylketonuria determined by 1H-MR spectroscopy

scientific article

Reversal of cardiomyopathy in propionic acidemia after liver transplantation: a 10-year follow-up.

scientific article published on 27 August 2015

Role of AMP-activated protein kinase on steroid hormone biosynthesis in adrenal NCI-H295R cells

scientific article

SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement.

scientific article published on 28 September 2016

Selective galactose culture condition reveals distinct metabolic signatures in pyruvate dehydrogenase and complex I deficient human skin fibroblasts

scientific article published on 28 February 2019

Serum acylcarnitine profile in endurance horses with and without metabolic dysfunction

scientific article published on 10 December 2019

Stunted growth, splenomegaly, and interstitial pneumopathy

scientific article published on 27 August 2014

T cell inhibitory mechanisms in a model of aggressive Non-Hodgkin's Lymphoma

scientific article published on 21 September 2017

The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch-Nyhan Disease

scientific article published on 14 June 2016

Treatment with low-dose diazoxide in two growth-retarded prepubertal girls with glycogen storage disease type Ia resulted in catch-up growth.

scientific article published in November 1997

Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria.

scientific article published on 17 October 2013

Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria

scientific article

Variability in urinary oxalate measurements between six international laboratories.

scientific article published on 31 March 2011

Weekly versus biweekly lipid removal and effect of statins in severe hypercholesterolemia

scientific article published on 01 November 1998

[Eating behavior, diabetes and weight control in girls with insulin-dependent diabetes mellitus (type 1)]

scientific article published on 01 September 1996

[Hereditary metabolic diseases in adults]

scientific article published on 01 January 1998

[Hypoglycemia in infancy -- not always of no importance!]

scientific article published on 01 March 2007

[Raising the internist's know-how in the field of rare diseases: mitochondrial diseases as an illustrative example].

scientific article

[Visual diagnoses in pediatrics. Xanthomas]

scientific article published on 01 August 2001

Paulina is supported by:

About Paulina

Help