Publications by authors named "Jean Baptiste Arnoux"


Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study.

EBioMedicine 2020 Jan 7;51:102623. Epub 2020 Jan 7.

University of Lorraine, INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, Nancy, France; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, Nutrition, and Metabolism, University Hospital of Nancy, Nancy, France; Reference Centre for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, Nancy F-54000, France.

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January 2020

Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions.

Hum Pathol 2017 Apr 11;62:160-169. Epub 2017 Jan 11.

Pathology Department Hôpital Necker-Enfants Malades, Assistance Publique, Hôpitaux de Paris, Université Sorbonne Paris Cité, 75015, Paris, France. Electronic address:

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April 2017

mTOR Inhibitors for the Treatment of Severe Congenital Hyperinsulinism: Perspectives on Limited Therapeutic Success.

J Clin Endocrinol Metab 2016 12 3;101(12):4719-4729. Epub 2016 Oct 3.

Department of Pediatrics (M.S.), Centre Hospitalier Universitaire Estaing, 63003 Clermont-Ferrand Cedex 1, France; Department of Pediatric Endocrinology (M.S.E., R.P., I.B.), Royal Manchester Children's Hospital, Manchester M13 9WL, United Kingdom; Faculty of Life Science (B.H., K.M., A.S., M.J.D.), University of Manchester, Manchester M13 9PL, United Kingdom; Department of Pediatrics (L.D., F.P.-L.B., E.L.), Sud Hospital, 35203 Rennes, France; Department of Pediatrics (R.R., C.F.), Timone Hospital, 13385 Marseille Cedex 5, France; Metabolism Unit (C.B., P.d.L., J.-B.A.), Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, 75743 Paris Cedex 15, France; Imagine-Genetic Disease Institute (P.d.L.), 75015 Paris, France; Paris Descartes University (P.d.L.), 75270 Paris, France; and Department of Genetics (C.S.-M.), Assistance Publique-Hôpitaux de Paris Groupe Hospitalier Pitié-Salpêtrière, Pierre et Marie Curie University, 75013 Paris Cedex 13, France.

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December 2016