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Author Details

Jean-Fran??ois Benoist
Hopital Universitaire Necker-Enfants Malades, Assistance Publique - Hopitaux de Paris
1994
139
30
Antoine Forget (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
38054546Postnatal outcome of children with antenatal colonic hyperechogenicity.Prenat Diagn2024
36803911Heterozygous pathogenic variation in GCH1 associated with treatable severe spastic tetraplegia.Parkinsonism Relat Disord2023
37915912Genetic screening in thrombotic microangiopathy: a plea for methylmalonic aciduria with cobalamine C deficiency detection.Clin Kidney J2023
37480106Citrulline in the management of patients with urea cycle disorders.Orphanet J Rare Dis2023
37783665Deafness, Encephalopathy, and Lactic Acidosis: What If It Was an Inborn Metabolic Error?Clin Chem2023
36469191Juvenile Neuropsychiatric Systemic Lupus Erythematosus: Identification of Novel Central Neuroinflammation Biomarkers.J Clin Immunol2023
35140137Diagnostic approach in adult-onset neurometabolic diseases.J Neurol Neurosurg Psychiatry2022
35440018Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B<sub>12</sub>.Clin Epigenetics2022
35460084Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.J Inherit Metab Dis2022
35618652Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia.J Inherit Metab Dis2022
36376887Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial.Orphanet J Rare Dis2022
35015843LC-MS/MS Identification of Prolidase Deficiency: A Rare Cause of Infantile Hepatosplenomegaly.Clin Chem2022
35151535β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity.Mol Genet Metab2022
32929747Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.J Inherit Metab Dis2021
34702858Liver and brain differential expression of one-carbon metabolism genes during ontogenesis.Sci Rep2021
34159801Nebulized curcumin protects neonatal lungs from antenatal insult in rats.Am J Physiol Lung Cell Mol Physiol2021
34040193Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.Genet Med2021
33985557Long-term renal outcome in methylmalonic acidemia in adolescents and adults.Orphanet J Rare Dis2021
34332075Eicosapentaenoic acid membrane incorporation stimulates ABCA1-mediated cholesterol efflux from human THP-1 macrophages.Biochim Biophys Acta Mol Cell Biol Lipids2021
33089527Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency.J Inherit Metab Dis2021
33113107Clinical and biochemical outcome of a patient with pyridoxine-dependent epilepsy treated by triple therapy (pyridoxine supplementation, lysine-restricted diet, and arginine supplementation).Acta Neurol Belg2021
33309011Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia.Mol Genet Metab2021
33427863Adolescent-Onset and Adult-Onset Vitamin-Responsive Neurogenetic Diseases: A Review.JAMA Neurol2021
33359303Association between Baseline Cortisol Serum Concentrations and the Effect of Prophylactic Hydrocortisone in Extremely Preterm Infants.J Pediatr2021
31525265Long-term outcome of methylmalonic aciduria after kidney, liver, or combined liver-kidney transplantation: The French experience.J Inherit Metab Dis2020
31816104Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome.J Inherit Metab Dis2020
31789780Long-Term Follow-up of a Child With Putative Remethylation Disorder Who Presented With Severe Anemia as a Neonate.J Pediatr Hematol Oncol2020
31672574Contrasting effects of membrane enrichment with polyunsaturated fatty acids on phospholipid composition and cholesterol efflux from cholesterol-loaded J774 mouse or primary human macrophages.Biochim Biophys Acta Mol Cell Biol Lipids2020
33159497Pregnancy in MNGIE: a clinical and metabolic honeymoon.Ann Clin Transl Neurol2020
33105619Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease.Brain Sci2020
32607910Hypervitaminosis A is associated with immunological non-response in HIV-1-infected adults: a case-control study.Eur J Clin Microbiol Infect Dis2020
32826232The Folate Cycle Enzyme MTHFR Is a Critical Regulator of Cell Response to MYC-Targeting Therapies.Cancer Discov2020
32933895[Biochemical diagnosis of inherited metabolical diseases: metabolic profiles and difficulties for validating methods].Ann Biol Clin (Paris)2020
32753366[An acidosis not so basic].Ann Biol Clin (Paris)2020
32154053Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.JIMD Rep2020
32478762Identification and quantification of amino acids and related compounds based on Differential Mobility Spectrometry.Analyst2020
32444102The Case | Fluctuating serum creatinine and crystals in urine.Kidney Int2020
32195121Nitrous oxide and vitamin B12 in sickle cell disease: Not a laughing situation.Mol Genet Metab Rep2020
30635937SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.Ann Neurol2019
31847813ShiF acts as an auxiliary factor of aerobactin secretion in meningitis Escherichia coli strain S88.BMC Microbiol2019
31575911Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening.Sci Rep2019
31366451Absence of increased blood decanoic acid levels in children with epilepsy treated with classic ketogenic diet.Epileptic Disord2019
31035572Melatonin Levels in Preterm and Term Infants and Their Mothers.Int J Mol Sci2019
30448717Cerebral folate deficiency in adults: A heterogeneous potentially treatable condition.J Neurol Sci2019
29302025APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.Nat Commun2018
30197982Cobalamin C Deficiency Induces a Typical Histopathological Pattern of Renal Arteriolar and Glomerular Thrombotic Microangiopathy.Kidney Int Rep2018
30007356A new AMPK activator, GSK773, corrects fatty acid oxidation and differentiation defect in CPT2-deficient myotubes.Hum Mol Genet2018
29778138Are we missing patients with biotinidase deficiency in France?Rev Neurol (Paris)2018
29637184Incidence of infantile Pompe disease in the Maroon population of French Guiana.BMJ Paediatr Open2018
29661537Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?Eur J Paediatr Neurol2018
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Collaborators

Tomi Pastinen
Co-authored papers 3
Wendy K Chung
Boston Children's Hospital, Harvard Medical School
Co-authored papers 3
J. Wade Harper
Harvard Medical School
Co-authored papers 2
Benjamin A Raby
Co-authored papers 2
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Co-authored papers 2
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McGill University and Genome Quebec Innovation Centre
Co-authored papers 2
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Rady Children's Institute for Genomic Medicine
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Duke University
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Universite Paris Saclay
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Edward L Huttlin
Harvard Medical School
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Il??ana Antony-Debr??
INSERM, France Villejuif Universite Paris-Saclay
Co-authored papers 1
Jun Qi
Dana-Farber Cancer Institute
Co-authored papers 1
Lina Benajiba
Universite de Paris, Inserm CIC 1427
Co-authored papers 1
Gael Fortin
INSERM UMR , St Louis Hospital, University of Paris
Co-authored papers 1
Reinaldo Dal Bello
Universite Paris Cite, INSERM, CNRS
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Bruce A Barshop
University of California San Diego
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Nina Fenouille
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Olivier Gout
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Release 1.2