Publications by authors named "Jean-Francois Benoist"

83Publications

Biochemical diagnosis of inherited metabolical diseases: metabolic profiles and difficulties for validating methods.

Ann Biol Clin (Paris) 2020 Oct;78(5):469-470

Service de biochimie et biologie moléculaire Grand Est- UM Pathologies métaboliques, érythrocytaires et dépistage périnatal, Centre de biologie Est, Hospices civils de Lyon, BronFrance.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1684/abc.2020.1584DOI Listing
October 2020

An acidosis not so basic.

Ann Biol Clin (Paris) 2020 Aug;78(4):417-424

Laboratoire de biochimie-hormonologie, Centre hospitalo-universitaire Robert-Debré, AP-HP, Paris, France, LIPSYS, Faculté de pharmacie, Université Paris-Saclay, Châtenay-Malabry, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1684/abc.2020.1573DOI Listing
August 2020

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

Eur J Clin Microbiol Infect Dis 2020 Nov 30;39(11):2091-2098. Epub 2020 Jun 30.

U1286 - Infinite - Institute for Translational Research in Inflammation, University Lille, F-59000, Lille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10096-020-03954-0DOI Listing
November 2020

Identification and quantification of amino acids and related compounds based on Differential Mobility Spectrometry.

Analyst 2020 Jul 1;145(14):4889-4900. Epub 2020 Jun 1.

Université Paris-Saclay, CNRS, Institut de Chimie Physique, 91405, Orsay, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1039/d0an00377hDOI Listing
July 2020

The Case | Fluctuating serum creatinine and crystals in urine.

Kidney Int 2020 Jun;97(6):1307-1308

Sorbonne Université, Institut national de la santé et de la recherche médicale (INSERM) Unité mixte de recherche (UMR) S 1155, Assistance Publique des Hôpitaux de Paris (AP-HP) Service des Explorations Fonctionnelles Multidisciplinaires, Hôpital Tenon, Paris, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.kint.2019.11.028DOI Listing
June 2020

Nitrous oxide and vitamin B12 in sickle cell disease: Not a laughing situation.

Mol Genet Metab Rep 2020 Jun 17;23:100579. Epub 2020 Mar 17.

Reference Centre for Inborn Errors of Metabolism, Robert-Debré University Hospital, APHP, Paris 75019, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgmr.2020.100579DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7078522PMC
June 2020

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

J Inherit Metab Dis 2020 May 1;43(3):540-548. Epub 2020 Jan 1.

Reference Centre for Inborn Errors of Metabolism, Robert-Debré University Hospital, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jimd.12203DOI Listing
May 2020

Long-Term Follow-up of a Child With Putative Remethylation Disorder Who Presented With Severe Anemia as a Neonate.

J Pediatr Hematol Oncol 2020 May;42(4):332-333

Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MPH.0000000000001689DOI Listing
May 2020

Contrasting 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 Lipids 2020 02 29;1865(2):158536. Epub 2019 Oct 29.

Lip(Sys)(2) - EA 7357, Athérosclérose: homéostasie et trafic du cholestérol des macrophages, Univ. Paris-Sud, Université Paris-Saclay, UFR de Pharmacie, 92290 Châtenay-Malabry, France; Laboratoire de Biochimie, AP-HP (Assistance Publique-Hôpitaux de Paris), Hôpital Européen Georges Pompidou, 75015 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbalip.2019.158536DOI Listing
February 2020

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

Sci Rep 2019 Oct 1;9(1):14098. Epub 2019 Oct 1.

Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, 75019, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41598-019-50518-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6773867PMC
October 2019

Absence of increased blood decanoic acid levels in children with epilepsy treated with classic ketogenic diet.

Epileptic Disord 2019 Aug;21(4):366-369

Université Paris Diderot, Sorbonne Paris Cité, INSERM UMR1141, Paris, AP-HP, Hôpital Robert Debré, Service de Neurologie Pédiatrique, Paris.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1684/epd.2019.1079DOI Listing
August 2019

Cerebral folate deficiency in adults: A heterogeneous potentially treatable condition.

J Neurol Sci 2019 01 10;396:112-118. Epub 2018 Nov 10.

AP-HP, Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; AP-HP, Robert Debré University Hospital, Department of Biochemistry, Paris, France; Lip(Sys)(2), Université Paris Sud, Orsay, France; MedDay Pharmaceuticals, 96 Boulevard Haussmann, Paris, France. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S0022510X183046
Publisher Site
http://dx.doi.org/10.1016/j.jns.2018.11.014DOI Listing
January 2019

Long-term liver disease in methylmalonic and propionic acidemias.

Mol Genet Metab 2018 04 7;123(4):433-440. Epub 2018 Feb 7.

Biochemistry Laboratory, APHP, Robert Debré University Hospital, Paris, France; Paris Sud University, Chatenay Malabry, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2018.01.009DOI Listing
April 2018

Pancytopenia and megaloblastic erythropoiesis reveal a novel GIF mutation.

Br J Haematol 2018 05 25;181(3):304. Epub 2018 Jan 25.

Department of Paediatric Haematology and Oncology, APHM, CHU Timone Enfants, Marseille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/bjh.15104DOI Listing
May 2018

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

Biochim Biophys Acta Mol Cell Biol Lipids 2017 Oct 21;1862(10 Pt A):1079-1091. Epub 2017 Jul 21.

Univ Paris Sud-Paris Saclay, EA 7357, Lip(Sys)(2), Athérosclérose: homéostasie et trafic du cholestérol des macrophages (FKA EA 4529), UFR de Pharmacie, 92296 Châtenay-Malabry, France; AP-HP (Assistance Publique-Hôpitaux de Paris), Hôpital Européen Georges Pompidou, Laboratoire de Biochimie, 75015 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbalip.2017.07.011DOI Listing
October 2017

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

Sci Rep 2017 07 14;7(1):5496. Epub 2017 Jul 14.

Neuroglial Interactions in Cerebral Physiopathology, Center for Interdisciplinary Research in Biology, Collège de France, CNRS UMR 7241, INSERM U1050, Labex Memolife, PSL Research University, Paris, 75005, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41598-017-05542-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511156PMC
July 2017

Dopamine and serotonin levels in cerebrospinal fluid during episodes of Kleine-Levin syndrome.

Sleep Med 2017 08 27;36:184-185. Epub 2017 May 27.

Sleep Disorders Unit, Pitié-Salpêtrière University Hospital, AP-HP, Paris, France; University-Hospital Institute, ICM, UPMC-Paris 6, Inserm U 1127, CNRS UMR 722, Paris, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.sleep.2017.05.001DOI Listing
August 2017

Pharmacological inhibition of carnitine palmitoyltransferase 1 restores mitochondrial oxidative phosphorylation in human trifunctional protein deficient fibroblasts.

Biochim Biophys Acta Mol Basis Dis 2017 06 6;1863(6):1292-1299. Epub 2017 Apr 6.

CHU de Tours, Médecine Pédiatrique, Tours, France, and Inserm U1069, Université François Rabelais de Tours, PRES Centre-Val de Loire Universités, Tours, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbadis.2017.04.005DOI Listing
June 2017

Transient neonatal renal failure and massive polyuria in MEGDEL syndrome.

Mol Genet Metab Rep 2016 Jun 10;7:8-10. Epub 2016 Mar 10.

Child Neurology, Hôpital Robert Debré, APHP, Paris, France; Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France; Inserm U1141 and Université Paris-Diderot, Sorbonne Paris Cité, site Robert Debré, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgmr.2016.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908062PMC
June 2016

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

PLoS One 2016 7;11(4):e0152919. Epub 2016 Apr 7.

Sorbonne Universités - Université Pierre et Marie Curie Université de Paris VI, École Normale Supérieure - PSL Research University, Département de Chimie, CNRS UMR 7203 LBM, 4 Place Jussieu, F-75005, Paris, France.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0152919PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4824355PMC
August 2016

Angelman syndrome and isovaleric acidemia: What is the link?

Mol Genet Metab Rep 2015 Jun 30;3:36-8. Epub 2015 Mar 30.

Reference Center for Inborn Errors of Metabolism, Hôpital Robert Debré, APHP, Paris, France; Department of Child Neurology, Hôpital Robert Debré, APHP, Paris, France; Inserm U1141, Hôpital Robert Debré, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgmr.2015.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750580PMC
June 2015

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

Biochim Biophys Acta 2016 Apr 8;1861(4):331-41. Epub 2016 Jan 8.

Lip(Sys) 2, Athérosclérose: homéostasie et trafic du cholestérol des macrophages,(1) Univ Paris-Sud, Université Paris-Saclay, 92296 Châtenay-Malabry, France; Laboratoire de Biochimie, AP-HP (Assistance Publique-Hôpitaux de Paris), Hôpital Européen Georges Pompidou, 75015 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbalip.2016.01.002DOI Listing
April 2016

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

Biol Res 2016 Jan 8;49. Epub 2016 Jan 8.

School of Medicine, IRCAN, UMR CNRS 7284/INSERM U1081/UNS, Nice Sophia-Antipolis University, 28 av de Valombrose, 06107, Nice Cedex 2, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s40659-015-0065-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4705639PMC
January 2016

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

Lancet 2015 Sep;386(9997):1011-2

Nephrology Department, Rouen University Hospital, Rouen, France; INSERM U1096, Rouen University Medical School, Rouen, France; IRIB, Institute for Research and Innovation in Biomedicine, Rouen, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S0140-6736(15)00076-8DOI Listing
September 2015

Multicentric evaluation of eight glucose and four ketone blood meters.

Clin Biochem 2015 Dec 29;48(18):1310-6. Epub 2015 Jul 29.

APHP, Hôpital Tenon, Service de Biochimie et Hormonologie, Paris F-75020, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clinbiochem.2015.07.032DOI Listing
December 2015

High homocysteine induces betaine depletion.

Biosci Rep 2015 Apr 28;35(4). Epub 2015 Apr 28.

‡Laboratory for Clinical Biochemistry and Metabolism, Department of General Pediatrics, Center for Pediatrics and Adolescent Medicine University Hospital, Freiburg D-79106, Germany.

View Article

Download full-text PDF

Source
http://www.bioscirep.org/content/ppbioscirep/35/4/e00222.ful
Web Search
http://bioscirep.org/cgi/doi/10.1042/BSR20150094
Publisher Site
http://dx.doi.org/10.1042/BSR20150094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613678PMC
April 2015

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

J Inherit Metab Dis 2016 Jan 25;39(1):47-58. Epub 2015 Jun 25.

INSERM UMR-1124, Université Paris Descartes, Centre Universitaire des Saints Pères, 45 rue des Saints Pères, 75006, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-015-9871-3DOI Listing
January 2016

Ketogenic diet exhibits anti-inflammatory properties.

Epilepsia 2015 Jul 23;56(7):e95-8. Epub 2015 May 23.

INSERM, U1141, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/epi.13038DOI Listing
July 2015

New spastic paraplegia phenotype associated to mutation of NFU1.

Orphanet J Rare Dis 2015 Feb 8;10:13. Epub 2015 Feb 8.

Paris Diderot University - Sorbonne Paris Cité; Inserm U1141, DHU PROTECT, Robert Debré Hospital, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-015-0237-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4333890PMC
February 2015

Clinical reasoning: A young woman with rapid mental deterioration and leukoencephalopathy: a treatable cause.

Neurology 2014 Nov;83(21):e182-6

From the Departments of Neurology (D.B., M.E.-M., C.T., A.V.) and Neuro-ophthalmology (D.B., C.T., A.V.), Hôpital Neurologique Pierre Wertheimer, Lyon; Université de Lyon 1 (D.B., C.T., A.V.), Université Claude Bernard; Department of Neurology (E.D.), Centre Hospitalier de Vienne; Service des Maladies Héréditaires du Métabolisme et Centre de Référence des Maladies Héréditaires du Métabolisme (C.A., N.G.), HFME, Lyon; Service de Biochimie-Hormonologie (J.-F.B.), APHP-Hôpital Robert Debré, Paris; and Service de Neurologie (P.L.), CHRU Gui-de-Chauliac, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000001006DOI Listing
November 2014

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

Orphanet J Rare Dis 2014 Jun 5;9:79. Epub 2014 Jun 5.

INSERM UMR-S 1124, Université Paris Descartes, UFR Biomédicale des Saints-Pères, 45, rue des Saints-Pères, 75270 Paris cedex 06, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-9-79DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4051957PMC
June 2014

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

Orphanet J Rare Dis 2013 Sep 23;8:148. Epub 2013 Sep 23.

Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker-Enfants Malades, APHP, Université Paris Descartes, Institut Imagine, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-8-148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4016503PMC
September 2013

Neural tube defects, folic acid and methylation.

Int J Environ Res Public Health 2013 Sep 17;10(9):4352-89. Epub 2013 Sep 17.

Biochemistry-Hormonology Laboratory, Robert Debré Hospital, APHP, 48 bd Serrurier, Paris 75019, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijerph10094352DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3799525PMC
September 2013

Pathology influences blood pressure change following vagal stimulation in an animal intubation model.

PLoS One 2013 21;8(8):e69957. Epub 2013 Aug 21.

Critical Care Group - Portex Unit, Institute of Child Health, University College London, United Kingdom ; Assistance Publique-Hôpitaux de Paris, Réanimation Pédiatrique, Hôpital Robert Debré, Paris, France.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0069957PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3749158PMC
April 2014

Methylation metabolites in amniotic fluid depend on gestational age.

Prenat Diagn 2013 Sep 31;33(9):848-55. Epub 2013 May 31.

Biochemistry Hormonology Laboratory, AP-HP Hôpital Robert Debré, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.4142DOI Listing
September 2013

Measurement of free and total sialic acid by isotopic dilution liquid chromatography tandem mass spectrometry method.

J Chromatogr B Analyt Technol Biomed Life Sci 2011 Dec 13;879(31):3694-9. Epub 2011 Oct 13.

Laboratoire de Biochimie Hormonologie, Hôpital Robert Debré, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jchromb.2011.10.009DOI Listing
December 2011

Isolated remethylation disorders: do our treatments benefit patients?

J Inherit Metab Dis 2011 Feb 21;34(1):137-45. Epub 2010 May 21.

Reference Center for Metabolic Disease, Robert Debré University Hospital, Paris, France.

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007/s10545-010-9120
Web Search
http://link.springer.com/10.1007/s10545-010-9120-8
Publisher Site
http://dx.doi.org/10.1007/s10545-010-9120-8DOI Listing
February 2011

Gene induction for the treatment of methylmalonic aciduria.

J Gene Med 2009 Apr;11(4):361-9

Cell and Gene Therapy Group, Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jgm.1297DOI Listing
April 2009

Misleading behavioural phenotype with adenylosuccinate lyase deficiency.

Eur J Hum Genet 2009 Jan 1;17(1):133-6. Epub 2008 Oct 1.

Département de Pédiatrie, Hoôpital Necker Enfants Malades, AP-HP, Université Paris Descartes, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2008.174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2985950PMC
January 2009

An antenatal hyper-echogenic colon: question.

Pediatr Nephrol 2009 Feb 13;24(2):275, 277-9. Epub 2008 Aug 13.

Département de Néphrologie et Hémodialyse Pédiatrique, Hôpital Clocheville, 49 Boulevard Béranger, 37000, Tours, France.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00467-008-0930-y
Publisher Site
http://dx.doi.org/10.1007/s00467-008-0930-yDOI Listing
February 2009

Inborn error of amino acid synthesis: human glutamine synthetase deficiency.

J Inherit Metab Dis 2006 Apr-Jun;29(2-3):352-8

Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Münster, Albert-Schweitzer-Str. 33, 48129, Münster, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-006-0256-5DOI Listing
January 2007

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

Rapid Commun Mass Spectrom 2006 ;20(9):1405-21

Laboratoire des Mécanismes Réactionnels, Unité Mixte de recherche CNRS 7651, Ecole Polytechnique, 91128 Palaiseau Cedex, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/rcm.2459DOI Listing
July 2007

Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency.

Eur J Pediatr 2006 Jun 8;165(6):389-91. Epub 2006 Mar 8.

Groupement de Médecine Pédiatrique, Hôpital Clocheville, 49 Boulevard Béranger, 37 044 Tours, Cedex 1, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00431-005-0052-5DOI Listing
June 2006

Congenital glutamine deficiency with glutamine synthetase mutations.

N Engl J Med 2005 Nov;353(18):1926-33

Universitätsklinikum Münster, Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin, Münster, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa050456DOI Listing
November 2005