J. Benoist

F. Muller, J. Benoist, M. Fontanges, 2011, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Transient neonatal renal failure and massive polyuria in MEGDEL syndrome

O. Boespflug-Tanguy, A. Bourillon, C. Jardel, 2016, Molecular genetics and metabolism reports.

Angelman syndrome and isovaleric acidemia: What is the link?

H. Maurey, M. Schiff, S. Drunat, 2015, Molecular genetics and metabolism reports.

Adolescent-Onset and Adult-Onset Vitamin-Responsive Neurogenetic Diseases: A Review.

N. Shor, J. Benoist, Y. Nadjar, 2021, JAMA neurology.

New spastic paraplegia phenotype associated to mutation of NFU1

M. Elmaleh, L. Vallée, A. Imbard, 2015, Orphanet Journal of Rare Diseases.

Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases

Christina Lam, C. Ferreira, A. Freeman, 2021, Genetics in Medicine.

Isolated remethylation disorders: do our treatments benefit patients?

B. Tilea, M. Schiff, J. Benoist, 2011, Journal of Inherited Metabolic Disease.

First case of hereditary xanthinuria in a Moroccan family

J. Benoist, L. Chabaa, A. Ezoubeiri, 2019, PAMJ Clinical Medicine.

Should Metabolic Diseases Be Systematically Screened in Nonsyndromic Autism Spectrum Disorders?

R. Delorme, M. Mouren, M. Schiff, 2011, PloS one.

[Should a metabolic work-up be performed in autism?].

R. Delorme, M. Schiff, J. Benoist, 2010, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia

R. Lachmann, A. Servais, P. de Lonlay, 2022, Journal of inherited metabolic disease.

Molecular basis of methylmalonyl‐CoA mutase apoenzyme defect in 40 European patients affected by mut° and mut– forms of methylmalonic acidemia: Identification of 29 novel mutations in the MUT gene

J. Elion, I. Callebaut, J. Benoist, 2005, Human mutation.

Are we missing patients with biotinidase deficiency in France?

B. Stankoff, B. Wolf, C. Vignal, 2018, Revue neurologique.

How can cobalamin injections be spaced in long-term therapy for inborn errors of vitamin B(12) absorption?

M. Schiff, S. Lebon, O. Fenneteau, 2012, Molecular genetics and metabolism.

Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening

O. Baud, A. Imbard, M. Schiff, 2019, Scientific Reports.

Melatonin Levels in Preterm and Term Infants and Their Mothers

P. Gressens, V. Biran, O. Baud, 2019, International journal of molecular sciences.

Detection of 28 neurotransmitters and related compounds in biological fluids by liquid chromatography/tandem mass spectrometry.

Frédéric Clerc, Y. Hoppilliard, J. Benoist, 2006, Rapid communications in mass spectrometry : RCM.

Nociceptin/orphanin FQ exacerbates excitotoxic white-matter lesions in the murine neonatal brain.

P. Gressens, G. Calo’, P. Evrard, 2001, The Journal of clinical investigation.

Mitochondrial neurogastrointestinal encephalomyopathy in three siblings

J. Burgunder, S. Gallati, F. Seibold, 2007, Journal of Neurology.

Cerebral folate deficiency in adults: A heterogeneous potentially treatable condition

F. Sedel, E. Roze, C. Lubetzki, 2019, Journal of the Neurological Sciences.

Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias

N. Boddaert, D. Rabier, I. Desguerre, 2013, Orphanet Journal of Rare Diseases.

Eicosapentaenoic acid membrane incorporation stimulates ABCA1-mediated cholesterol efflux from human THP-1 macrophages.

N. Fournier, B. Vedie, J. Benoist, 2021, Biochimica et biophysica acta. Molecular and cell biology of lipids.

Eicosapentaenoic acid membrane incorporation impairs cholesterol efflux from cholesterol-loaded human macrophages by reducing the cholesteryl ester mobilization from lipid droplets.

J. Paul, E. Caudron, N. Fournier, 2017, Biochimica et biophysica acta. Molecular and cell biology of lipids.

Spondylocostal dysostosis associated with methylmalonic aciduria.

S. Ellard, C. Kim, D. Bertola, 2009, Genetic testing and molecular biomarkers.

Neural Tube Defects, Folic Acid and Methylation

H. Blom, A. Imbard, J. Benoist, 2013, International journal of environmental research and public health.

Long-term outcome in methylmalonic aciduria: a series of 30 French patients.

N. Boddaert, Philippe M. Campeau, D. Rabier, 2009, Molecular genetics and metabolism.

Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria.

A. Munnich, C. Guyot, D. Rabier, 2008, Molecular genetics and metabolism.

Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease

F. Sturtz, M. Rio, P. Derouault, 2020, Brain sciences.

Cerebrospinal fluid protein concentrations in children: age-related values in patients without disorders of the central nervous system.

P. Morel, J. Benoist, P Morel, 2000, Clinical chemistry.

Cerebrospinal fluid lactate and pyruvate concentrations and their ratio in children: age-related reference intervals.

C. Alberti, J. Benoist, D. Biou, 2003, Clinical chemistry.

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.

Misleading behavioural phenotype with adenylosuccinate lyase deficiency

I. Desguerre, M. Vincent, N. Bahi-Buisson, 2009, European Journal of Human Genetics.

N219Y, a new frequent mutation among mut° forms of methylmalonic acidemia in Caucasian patients

J. Elion, A. Aydın, I. Callebaut, 2001, European Journal of Human Genetics.

An antenatal hyper-echogenic colon: answer

H. Nivet, J. Benoist, S. Cloarec, 2009, Pediatric Nephrology.

Antenatal biochemical expression of cystinuria and relation to fetal hyperechogenic colon.

C. Garel, A. Imbard, F. Muller, 2007, Clinical chemistry.

Juvenile Neuropsychiatric Systemic Lupus Erythematosus: Identification of Novel Central Neuroinflammation Biomarkers

M. Elmaleh, S. Auvin, S. Costi, 2022, Journal of Clinical Immunology.

Long-term liver disease in methylmalonic and propionic acidemias.

A. Imbard, G. Touati, A. Slama, 2018, Molecular genetics and metabolism.

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.

Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease.

R. Salomon, D. Rabier, Y. Aigrain, 2013, Molecular genetics and metabolism.

A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

W. Chung, M. Baumgartner, A. Montpetit, 2018, Nature Communications.

Management of West Syndrome in a Patient With Methylmalonic Aciduria

N. Boddaert, Philippe M. Campeau, O. Dulac, 2010, Journal of Child Neurology.

Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence

H. Blom, J. Fletcher, B. Barshop, 2020, JIMD reports.

Non-ketogenic combination of nutritional strategies provides robust protection against seizures

G. Dallérac, N. Rouach, S. Auvin, 2017, Scientific Reports.

Gene induction for the treatment of methylmalonic aciduria

J. Vadolas, J. Sarsero, M. Khaniani, 2009, The journal of gene medicine.

Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate

S. Ferdinandusse, R. Wanders, B. Andresen, 2016, Journal of Inherited Metabolic Disease.

Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi‐Bickel syndrome

B. Maranda, A. Novelli, R. Santer, 2019, Journal of inherited metabolic disease.

SLC13A3 variants cause acute reversible leukoencephalopathy and α‐ketoglutarate accumulation

A. Schlessinger, R. Helaers, R. Wevers, 2019, Annals of neurology.

Stilbenes and resveratrol metabolites improve mitochondrial fatty acid oxidation defects in human fibroblasts

F. Djouadi, J. Bastin, N. Latruffe, 2014, Orphanet Journal of Rare Diseases.

Dried Blood Spot Recovery: A Microfluidic Technique for Fast Elution Without Dilution

P. Tabeling, A. Vilquin, J. Benoist, 2023, 2303.06136.

Hypervitaminosis A is associated with immunological non-response in HIV-1-infected adults: a case-control study

H. Melliez, L. Cynober, J. Benoist, 2020, European Journal of Clinical Microbiology & Infectious Diseases.

[Procalcitonin in severe trauma].

O. Mimoz, M. Assicot, J. Benoist, 1998, Annales de biologie clinique.

Contrasting effects of membrane enrichment with polyunsaturated fatty acids on phospholipid composition and cholesterol efflux from cholesterol-loaded J774 mouse or primary human macrophages.

J. Paul, N. Fournier, B. Vedie, 2020, Biochimica et biophysica acta. Molecular and cell biology of lipids.

Macrophage activity may be modified in vivo by galenical excipients

J. Benoist, E. Bizi, S. Orbach-Arbouys, 1993 .

Multicentric evaluation of eight glucose and four ketone blood meters.

J. Launay, J. Benoist, M. Fonfrède, 2015, Clinical biochemistry.

Adult-onset renal thrombotic microangiopathy and pulmonary arterial hypertension in cobalamin C deficiency

J. Benoist, S. Bekri, D. Guerrot, 2015, The Lancet.

Eicosapentaenoic acid membrane incorporation impairs ABCA1-dependent cholesterol efflux via a protein kinase A signaling pathway in primary human macrophages.

J. Paul, N. Fournier, B. Vedie, 2016, Biochimica et biophysica acta.

Translocator Protein-Mediated Stabilization of Mitochondrial Architecture during Inflammation Stress in Colonic Cells

V. Papadopoulos, Sunghoon Lee, P. Rustin, 2016, PloS one.

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

R. Delorme, F. Rivier, A. Afenjar, 2012, Orphanet Journal of Rare Diseases.

Mouse Studies to Shape Clinical Trials for Mitochondrial Diseases: High Fat Diet in Harlequin Mice

P. Bénit, P. Rustin, M. Schiff, 2011, PloS one.

Mitochondrial neurogastrointestinal encephalomyopathy in three siblings

J. Burgunder, S. Gallati, F. Seibold, 2007, Journal of Neurology.

Phosphoethanolamine normal range in pediatric urines for hypophosphatasia screening

A. Imbard, C. Alberti, C. Ottolenghi, 2012, Clinical Chemistry and Laboratory Medicine.

Liver and brain differential expression of one-carbon metabolism genes during ontogenesis

H. Blom, P. Gressens, A. Imbard, 2021, Scientific Reports.

Association between Baseline Cortisol Serum Concentrations and the Effect of Prophylactic Hydrocortisone in Extremely Preterm Infants.

D. Mohamed, V. Biran, O. Baud, 2020, The Journal of pediatrics.

Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients.

M. Durán, A. V. van Kuilenburg, L. Zoetekouw, 2010, Biochimica et Biophysica Acta.

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.

Edward L. Huttlin, J. Mullikin, T. Meitinger, 2017, American journal of human genetics.

Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1

A. Durr, M. Koenig, A. Dürr, 2007, Neurology.

Progression despite replacement of a myopathic form of coenzyme Q10 defect

N. Romero, A. Lombès, J. Benoist, 2004, Neurology.

Circulating cardiac troponin I in trauma patients without cardiac contusion

O. Mimoz, K. Samii, A. Edouard, 1998, Intensive Care Medicine.

Heterozygous pathogenic variation in GCH1 associated with treatable severe spastic tetraplegia.

M. Michaud, S. Frismand, J. Benoist, 2023, Parkinsonism & related disorders.

Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's disease

A. Durr, C. Jauffret, P. Carlier, 2010, European Journal of Human Genetics.

Non-ketogenic combination of nutritional strategies provides robust protection against seizures

G. Dallérac, N. Rouach, S. Auvin, 2017, Scientific Reports.

Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria

S. Marret, J. Benoist, S. Bekri, 2017, International journal of molecular sciences.

Disorders of Branched-Chain Amino Acid Metabolism

J. Vockley, A. Brassier, M. Schiff, 2022, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.

NK/T‐CELL LYMPHOMA, THE FRENCH EXPERIENCE.

O. Hermine, L. Couronné, A. Jaccard, 2017 .

N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients.

J. Elion, A. Aydın, I. Callebaut, 2001, European journal of human genetics : EJHG.

Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12

M. Baumgartner, D. Trégouët, P. Morange, 2022, Clinical epigenetics.

Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes

A. Chaussenot, S. Bannwarth, J. Benoist, 2016, Biological Research.

Differences in coenzyme Q10 content in deltoid and quadriceps muscles.

A. Lombès, J. Benoist, D. Biou, 2003, Clinica chimica acta; international journal of clinical chemistry.

Maternal and fetal tyrosinemia type I

A. Imbard, J. Benoist, N. García Segarra, 2010, Journal of Inherited Metabolic Disease.

Clinical Reasoning: A young woman with rapid mental deterioration and leukoencephalopathy

A. Vighetto, C. Tilikete, D. Biotti, 2014, Neurology.

Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?

B. Plecko, L. Bok, P. Mills, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Pyridoxine-dependent epilepsy: A novel mutation in a Tunisian child.

C. Drissi, J. Benoist, H. Benrhouma, 2017, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Molecular and structural analysis of two novel mutations in a patient with mut(-) methylmalonyl-CoA deficiency.

J. Elion, I. Callebaut, J. Mornon, 2001, Molecular genetics and metabolism.

Clinical and molecular characterization of adult patients with late‐onset MTHFR deficiency

M. Baumgartner, C. Marelli, F. Mochel, 2020, Journal of inherited metabolic disease.

LC-MS/MS Identification of Prolidase Deficiency: A Rare Cause of Infantile Hepatosplenomegaly.

A. Imbard, I. Melki, M. Schiff, 2022, Clinical chemistry.

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

M. Baumgartner, H. Blom, L. Vilarinho, 2016, Journal of Inherited Metabolic Disease.

The ssbL Gene Harbored by the ColV Plasmid of an Escherichia coli Neonatal Meningitis Strain Is an Auxiliary Virulence Factor Boosting the Production of Siderophores through the Shikimate Pathway

P. Bidet, S. Bonacorsi, J. Benoist, 2014, Journal of bacteriology.

Neurocognitive profiles in MSUD school-age patients

G. Touati, A. Brassier, A. Cano, 2017, Journal of Inherited Metabolic Disease.

Renal effects of low-dose dopamine during vasopressor therapy for posttraumatic intracranial hypertension

O. Mimoz, K. Samii, A. Edouard, 1999, Intensive Care Medicine.

Apport de la procalcitonine dans le diagnostic des infections materno-fœtales

D. Luton, J. Guibourdenche, J. Benoist, 1998 .

[Determination of procalcitonin in the diagnosis of maternal-fetal infections].

D. Luton, J. Guibourdenche, J. Benoist, 1998, Annales de biologie clinique.

Genetic screening in thrombotic microangiopathy: a plea for methylmalonic aciduria with cobalamine C deficiency detection

L. Raymond, J. Benoist, L. Mesnard, 2023, Clinical kidney journal.

[Should a metabolic work-up be performed in autism?].

J. Benoist, R. Delorme, H. O. Baulny, 2010, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Pregnancy in MNGIE: a clinical and metabolic honeymoon

A. Munnich, F. Rivier, C. Marelli, 2020, Annals of clinical and translational neurology.