C. Pontoizeau

发表

Long-term renal outcome in methylmalonic acidemia in adolescents and adults

F. Bienaimé, A. Servais, P. de Lonlay, 2021, Orphanet Journal of Rare Diseases.

Identification of Modulators of the C. elegans Aryl Hydrocarbon Receptor and Characterization of Transcriptomic and Metabolic AhR-1 Profiles

X. Coumoul, S. Imbeaud, R. Barouki, 2022, Antioxidants.

Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency.

P. de Lonlay, A. Brassier, N. Bahi-Buisson, 2018, JIMD reports.

Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders.

N. Boddaert, A. Kaminska, B. Chadefaux-Vekemans, 2020, Molecular genetics and metabolism.

Downregulation of transcription factor E4F1 in hepatocarcinoma cells: HBV-dependent effects on autophagy, proliferation and metabolism.

P. Hainaut, G. Bonn, M. Cros, 2014, Carcinogenesis.

Putative Biomarkers of Environmental Enteric Disease Fail to Correlate in a Cross-Sectional Study in Two Study Sites in Sub-Saharan Africa

Munir A. Winkel, P. Sansonetti, R. Barouki, 2022, Nutrients.

Factors associated with anaemia among preschool- age children in underprivileged neighbourhoods in Antananarivo, Madagascar

P. Sansonetti, R. Barouki, N. Kapel, 2022, BMC Public Health.

Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice

A. Rötig, P. de Lonlay, F. Mingozzi, 2022, Nature Communications.

Central nervous system complications in adult cystinosis patients

H. Lemaître, N. Boddaert, C. Antignac, 2019, Journal of inherited metabolic disease.

In Vivo 2-Hydroxyglutarate Monitoring With Edited MR Spectroscopy for the Follow-up of IDH-Mutant Diffuse Gliomas

S. Lehéricy, L. Capelle, D. Galanaud, 2022, Neurology.

Adverse events associated with currently used medical treatments for cystinuria and treatment goals: results from a series of 442 patients in France

J. Jais, M. Daudon, P. Meria, 2019, BJU international.

Autism spectrum disorders in propionic acidemia patients

L. Ouss, A. Brassier, J. Bonnefont, 2018, Journal of Inherited Metabolic Disease.

Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles.

R. Barouki, B. Chadefaux-Vekemans, P. de Lonlay, 2015, JIMD reports.

5-Fluorouracil rechallenge after 5-fluorouracil-induced hyperammonemic encephalopathy

M. Ducreux, P. de Lonlay, A. Hollebecque, 2019, Anti-cancer drugs.

Management of 35 critically ill hyperammonemic neonates: Role of early administration of metabolite scavengers and continuous hemodialysis.

S. Marret, P. de Lonlay, A. Brassier, 2020, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Broad-ranging natural metabotype variation drives physiological plasticity in healthy control inbred rat strains.

M. Bihoreau, D. Gauguier, V. Navratil, 2011, Journal of proteome research.

OTC deficiency in females: Phenotype‐genotype correlation based on a 130‐family cohort

A. Munnich, F. Reyal, J. Steffann, 2021, Journal of inherited metabolic disease.

Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohort

A. Servais, G. Touati, A. Brassier, 2021, Molecular genetics and metabolism reports.

Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease

B. Chadefaux-Vekemans, A. Servais, P. de Lonlay, 2017, Journal of Inherited Metabolic Disease.

Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood

G. Pinto, A. Servais, P. de Lonlay, 2017, Orphanet Journal of Rare Diseases.

Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect

P. van Endert, M. Polak, N. Boddaert, 2020, Journal of inherited metabolic disease.

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

Thomas Meitinger, Nathalie Boddaert, Robert Barouki, 2017, American journal of human genetics.

Long‐term outcome of methylmalonic aciduria after kidney, liver, or combined liver‐kidney transplantation: The French experience

R. Salomon, F. Mochel, Y. Aigrain, 2020, Journal of inherited metabolic disease.

Metabolomic profiles of hepatocellular carcinoma in a European prospective cohort

F. Clavel-Chapelon, E. Riboli, P. Vineis, 2015, BMC Medicine.

Cystathionine as a marker for 1p/19q codeleted gliomas by in vivo magnetic resonance spectroscopy.

Stéphane Lehéricy, Romain Valabrègue, Clément Pontoizeau, 2019, Neuro-oncology.

DNA repair deficiency sensitizes lung cancer cells to NAD+ biosynthesis blockade

A. Ashworth, J. Adam, J. Soria, 2018, The Journal of clinical investigation.

Batch profiling calibration for robust NMR metabonomic data analysis

B. Bartosch, E. Jobard, B. Elena-Herrmann, 2013, Analytical and Bioanalytical Chemistry.

715 A Multi-marker Approach for Early Detection of HBV-related Hepatocellular Carcinoma in Areas of High Incidence

P. Hainaut, S. Sangrajrang, L. Beretta, 2012 .

Metabolomics-on-a-chip and predictive systems toxicology in microfluidic bioartificial organs.

Cécile Legallais, Eric Leclerc, Vincent Navratil, 2012, Analytical chemistry.

Targeted projection NMR spectroscopy for unambiguous metabolic profiling of complex mixtures

Torsten Herrmann, Lyndon Emsley, Clément Pontoizeau, 2010, Magnetic resonance in chemistry : MRC.

Evolution of Newborns' Urinary Metabolomic Profiles According to Age and Growth.

E. Jobard, B. Elena-Herrmann, P. Mouriquand, 2017, Journal of proteome research.

A serum nuclear magnetic resonance-based metabolomic signature of advanced metastatic human breast cancer.

E. Jobard, B. Elena-Herrmann, O. Trédan, 2014, Cancer letters.

Real‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid‐free formulas in France and Germany: A retrospective observational study

R. Posset, A. Servais, P. de Lonlay, 2021, JIMD reports.

Epileptic Phenotype of Two Siblings with Asparagine Synthesis Deficiency Mimics Neonatal Pyridoxine-Dependent Epilepsy

C. Fallet-Bianco, O. Dulac, A. Kaminska, 2016, Neuropediatrics.

High-Field NMR Metabolomics : Phenotyping the Metabolic Complexity from Humans to Cells

C. Pontoizeau, 2012 .

SRV: an open-source toolbox to accelerate the recovery of metabolic biomarkers and correlations from metabolic phenotyping datasets

Vincent Navratil, Clément Pontoizeau, Elise Billoir, 2013, Bioinform..

Enasidenib treatment in two individuals with D-2-hydroxyglutaric aciduria carrying a germline IDH2 mutation

K. Yen, V. Penard-Lacronique, B. Geoerger, 2023, Nature Medicine.

Metabolomics Analysis Uncovers That Dietary Restriction Buffers Metabolic Changes Associated with Aging in Caenorhabditis elegans

B. Elena-Herrmann, P. Toulhoat, L. Mouchiroud, 2014, Journal of proteome research.

Targeted projection NMR spectroscopy for unambiguous metabolic profiling of complex mixtures

T. Herrmann, P. Toulhoat, L. Emsley, 2010, Magnetic resonance in chemistry : MRC.

Methionine supplementation for multi-organ dysfunction in MetRS-related pulmonary alveolar proteinosis

C. Delacourt, J. El Benna, S. Renolleau, 2021, European Respiratory Journal.

Broad-ranging natural metabotype variation drives physiological plasticity in healthy control inbred rat strains.

M. Bihoreau, D. Gauguier, V. Navratil, 2011, Journal of proteome research.

Vitamin deficiencies in children: Lessons from clinical and neuroimaging findings.

A. Brassier, M. Aubart, Charles-Joris Roux, 2024, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.