Determinants of tyrosinaemia during nitisinone therapy in alkaptonuria
Ranganath, L. R., Milan, A. M., Hughes, A. T., Davison, A. S., M, Khedr, Norman, B. P., Bou-Gharios, G., Gallagher, J. A., Imrich, R., Arnoux, J. B., Rudebeck, M., Olsson, B.
Published in Scientific reports (27.09.2022)
Published in Scientific reports (27.09.2022)
Get full text
Journal Article
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism
Bellanné-Chantelot, C, Saint-Martin, C, Ribeiro, M-J, Vaury, C, Verkarre, V, Arnoux, J-B, Valayannopoulos, V, Gobrecht, S, Sempoux, C, Rahier, J, Fournet, J-C, Jaubert, F, Aigrain, Y, Nihoul-Fékété, C, de Lonlay, P
Published in Journal of medical genetics (01.11.2010)
Published in Journal of medical genetics (01.11.2010)
Get full text
Journal Article
Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism
Saint-Martin, C., Zhou, Q., Martin, G.M., Vaury, C., Leroy, G., Arnoux, J.-B., de Lonlay, P., Shyng, S.-L., Bellanné-Chantelot, C.
Published in Clinical genetics (01.05.2015)
Published in Clinical genetics (01.05.2015)
Get full text
Journal Article
Treatment of acute decompensation of maple syrup urine disease in adult patients with a new parenteral amino-acid mixture
Servais, A., Arnoux, J. B., Lamy, C., Hummel, A., Vittoz, N., Katerinis, I., Bazzaoui, V., Dubois, S., Broissand, C., Husson, M. C., Berleur, M. P., Rabier, D., Ottolenghi, C., Valayannopoulos, V., de Lonlay, P.
Published in Journal of inherited metabolic disease (01.11.2013)
Published in Journal of inherited metabolic disease (01.11.2013)
Get full text
Journal Article
Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B12
Valayannopoulos, V., Hubert, L., Benoist, J. F., Romano, S., Arnoux, J. B., Chrétien, D., Kaplan, J., Fakhouri, F., Rabier, D., Rötig, A., Lebre, A. S., Munnich, A., de Keyzer, Y., de Lonlay, P.
Published in Journal of inherited metabolic disease (2009)
Published in Journal of inherited metabolic disease (2009)
Get full text
Journal Article
Conference Proceeding
Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty
Ranganath, L.R., Khedr, M., Norman, B.P., Hughes, J.H., Imrich, R., Arnoux, J.B., Olsson, B., Rudebeck, M., Gallagher, J.A., Bou-Gharios, G.
Published in Molecular genetics and metabolism reports (01.09.2024)
Published in Molecular genetics and metabolism reports (01.09.2024)
Get full text
Journal Article
Management of 35 critically ill hyperammonemic neonates: Role of early administration of metabolite scavengers and continuous hemodialysis
Abily-Donval, L., Dupic, L., Joffre, C., Brassier, A., Arnoux, J.B., Grimaud, M., Lesage, F., de Saint Blanquat, L., Bekri, S., Marret, S., Pontoizeau, C., Renolleau, S., Ottolenghi, C., de Lonlay, P., Oualha, M.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.07.2020)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.07.2020)
Get full text
Journal Article
Benefit of Sebelipase Alfa in Children and Adults with Lysosomal Acid Lipase Deficiency Based on Analysis of Efficacy by Baseline Alanine Aminotransferase Level
Abel, F, Arnoux, J.-B, Kostyleva, M, Tylki-Szymańska, A, Friedman, M, Consuelo, A, Tripuraneni, R
Published in Journal of hepatology (2016)
Published in Journal of hepatology (2016)
Get full text
Journal Article
Renal transplantation in 4 patients with methylmalonic aciduria: A cell therapy for metabolic disease
Brassier, A., Boyer, O., Valayannopoulos, V., Ottolenghi, C., Krug, P., Cosson, M.A., Touati, G., Arnoux, J.B., Barbier, V., Bahi-Buisson, N., Desguerre, I., Charbit, M., Benoist, J.F., Dupic, L., Aigrain, Y., Blanc, T., Salomon, R., Rabier, D., Guest, G., de Lonlay, P., Niaudet, P.
Published in Molecular genetics and metabolism (01.09.2013)
Published in Molecular genetics and metabolism (01.09.2013)
Get full text
Journal Article
Acute psychosis in propionic acidemia: 2 case reports
Dejean de la Bâtie, C, Barbier, V, Valayannopoulos, V, Touati, G, Maltret, A, Brassier, A, Arnoux, J B, Grévent, D, Chadefaux, B, Ottolenghi, C, Canouï, P, de Lonlay, P
Published in Journal of child neurology (01.02.2014)
Published in Journal of child neurology (01.02.2014)
Get more information
Journal Article
Conduite à tenir devant une acidose lactique
Valayannopoulos, V., Arnoux, J.-B., Rio, M., de Lonlay, P.
Published in Archives de pédiatrie (Paris) (01.06.2009)
Published in Archives de pédiatrie (Paris) (01.06.2009)
Get full text
Journal Article
Conference Proceeding
Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia
Arnoux, J.B., Boddaert, N., Valayannopoulos, V., Romano, S., Bahi-Buisson, N., Desguerre, I., de Keyzer, Y., Munnich, A., Brunelle, F., Seta, N., Dautzenberg, M.D., de Lonlay, P.
Published in Molecular genetics and metabolism (01.04.2008)
Published in Molecular genetics and metabolism (01.04.2008)
Get full text
Journal Article
Metabolic emergencies: diagnostic algorithm of lactic acidosis
Valayannopoulos, V, Arnoux, J-B, Rio, M, de Lonlay, P
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.06.2009)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.06.2009)
Get full text
Journal Article
Démarche diagnostique et thérapeutique d’une maladie métabolique en anesthésie-réanimation
de Lonlay, P., Valayannopoulos, V., Arnoux, J.-B., Servais, A., Charron, B., Jacqmarcq, O., Ottolenghi, C., Hubert, P.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.06.2010)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.06.2010)
Get full text
Journal Article
Health status and comorbidities of adult patients with phenylketonuria (PKU) in France with a focus on early-diagnosed patients – A nationwide study of health insurance claims data
Charrière, Sybil, Maillot, Francois, Bouée, Stéphane, Douillard, Claire, Jacob, Christian, Schneider, Kim Maren, Theil, Julia, Arnoux, Jean-Baptiste
Published in Molecular genetics and metabolism (01.07.2023)
Published in Molecular genetics and metabolism (01.07.2023)
Get full text
Journal Article
Diagnostic and therapeutic management of inherited metabolic diseases in emergency and intensive care unit
de Lonlay, P, Valayannopoulos, V, Arnoux, J-B, Servais, A, Charron, B, Jacqmarcq, O, Ottolenghi, C, Hubert, P
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.06.2010)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.06.2010)
Get full text
Journal Article
Ewing's tumor
Taylor, M, Guillon, M, Champion, V, Marcu, M, Arnoux, J B, Hartmann, O
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.09.2005)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.09.2005)
Get full text
Journal Article
THU-437 - Benefit of Sebelipase Alfa in Children and Adults with Lysosomal Acid Lipase Deficiency Based on Analysis of Efficacy by Baseline Alanine Aminotransferase Level
Abel, F., Arnoux, J.-B., Kostyleva, M., Tylki-Szymańska, A., Friedman, M., Consuelo, A., Tripuraneni, R.
Published in Journal of hepatology (2016)
Published in Journal of hepatology (2016)
Get full text
Journal Article
Évaluation de l'état de santé des patients atteints de phénylcétonurie (PCU) diagnostiquée tardivement: une analyse du Système national des données de santé (SNDS) sur la période 2006-2018
Bouée, S., Charrière, S., Maillot, F., Theil, J., Jacob, C., Maren Schneider, K., Arnoux, J-B.
Published in Revue d'épidémiologie et de santé publique (01.11.2022)
Published in Revue d'épidémiologie et de santé publique (01.11.2022)
Get full text
Journal Article