Jean‐François Benoist

Author

Also Known As

Benoist, Jean-François, J Benoist, J F Benoist, J. F. Benoist, J.-F. Benoist, J.F. Benoist, J.‐F. Benoist, Jean-Francois Benoist, Jean-François Benoist, Jean-François Benoist

207

Publications

4.3K

Citations

H-Index

Concepts

All Affiliations

Hôpital Robert-Debré Assistance Publique – Hôpitaux de Paris Inserm Université Paris Cité Sorbonne Université

About

Jean‐François Benoist is an author at Hôpital Robert-Debré specializing in medicine, inherited metabolic disease, and nephrology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	21	30	1.6K
2	Health Sciences	5	5	293
3	Natural Sciences	3	3	106
4	Public Health	2	2	109
5	Education	1	1	14

Jean‐François Benoist

Publications

3.2K

Citations

H-Index

Page 1

	Year	Citations
Congenital Glutamine Deficiency with Glutamine Synthetase Mutations Johannes Häberle, Boris Görg, Frank Rutsch, New England Journal of Medicine Developmental AnomalyDevelopmental BiologyMendelian DisorderBrain DevelopmentAcid-base Homeostasis	2005	207
Ketogenic diet exhibits anti‐inflammatory properties Nina Dupuis, Niccolò Curatolo, Jean‐François Benoist, Epilepsia	2015	206
Multiple OXPHOS Deficiency in the Liver, Kidney, Heart, and Skeletal Muscle of Patients With Methylmalonic Aciduria and Propionic Aciduria Yves de Keyzer, Vassili Valayannopoulos, Jean‐François Benoist, Pediatric Research UrologyMultiple Oxphos DeficiencyMethylmalonic AciduriaMedicineSkeletal Muscle	2009	166
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability Yair Anikster, Tobias B. Haack, Thierry Vilboux, The American Journal of Human Genetics Genome InstabilityBiallelic MutationsMendelian DisorderGenetic DisorderGenetics	2017	149
Molecular basis of methylmalonyl‐CoA mutase apoenzyme defect in 40 European patients affected by <i>mut</i> ° and <i>mut</i> – forms of methylmalonic acidemia: Identification of 29 novel mutations in the MUT gene Cécile Acquaviva, Jean‐François Benoist, Sabrina Bernárdez Pereira, Human Mutation Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseGenetic Epidemiology	2005	107
Neuropsychiatric Disturbances in Presumed Late-Onset Cobalamin C Disease Emmanuel Roze, David Gervais, Sophie Demeret, Archives of Neurology	2003	99
Adult-Onset Eculizumab-Resistant Hemolytic Uremic Syndrome Associated With Cobalamin C Deficiency Émilie Cornec-Le Gall, Yahsou Delmas, L de Parscau, American Journal of Kidney Diseases Chronic Kidney DiseaseHematologyMedicineCobalamin C Deficiency	2013	94
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias Mathilde Nizon, Chris Ottolenghi, Vassili Valayannopoulos, Orphanet Journal of Rare Diseases	2013	85
A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients Jean‐Louis Guéant, Céline Chéry, Abderrahim Oussalah, Nature Communications	2017	84
Long-term outcome in methylmalonic aciduria: A series of 30 French patients M.-A. Cosson, Jean‐François Benoist, Guy Touati, Molecular Genetics and Metabolism GlomerulonephritisUrological ResearchUrologyRenal FunctionMethylmalonic Aciduria	2009	82

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