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Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families
Author / Creator:Banerjee, Indraneel ; Raskin, Julie ; Arnoux, Jean-Baptiste ; De Leon, Diva D. ; Weinzimer, Stuart A. ; Hammer, Mette ; Kendall, David M. ; Thornton, Paul S.
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2022-02, Vol.17 (1), p.61-12, Article 61
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Congenital hyperinsulinism: current trends in diagnosis and therapy
Author / Creator:Arnoux, Jean-Baptiste ; Verkarre, Virginie ; Saint-Martin, Cécile ; Montravers, Françoise ; Brassier, Anaïs ; Valayannopoulos, Vassili ; Brunelle, Francis ; Fournet, Jean-Christophe ; Robert, Jean-Jacques ; Aigrain, Yves ; Bellanné-Chantelot, Christine ; de Lonlay, Pascale
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2011-10, Vol.6 (1), p.63-63, Article 63
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Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice
Author / Creator:Pontoizeau, Clément ; Simon-Sola, Marcelo ; Gaborit, Clovis ; Nguyen, Vincent ; Rotaru, Irina ; Tual, Nolan ; Colella, Pasqualina ; Girard, Muriel ; Biferi, Maria-Grazia ; Arnoux, Jean-Baptiste ; Rötig, Agnès ; Ottolenghi, Chris ; de Lonlay, Pascale ; Mingozzi, Federico ; Cavazzana, Marina ; Schiff, Manuel
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2022-06, Vol.13 (1), p.3278-3278, Article 3278
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Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood
Author / Creator:Mauhin, Wladimir ; Habarou, Florence ; Gobin, Stéphanie ; Servais, Aude ; Brassier, Anaïs ; Grisel, Coraline ; Roda, Célina ; Pinto, Graziella ; Moshous, Despina ; Ghalim, Fahd ; Krug, Pauline ; Deltour, Nelly ; Pontoizeau, Clément ; Dubois, Sandrine ; Assoun, Murielle ; Galmiche, Louise ; Bonnefont, Jean-Paul ; Ottolenghi, Chris ; de Blic, Jacques ; Arnoux, Jean-Baptiste ; de Lonlay, Pascale
Publisher:England: BioMed Central
Journal title:Orphanet journal of rare diseases, 2017-01, Vol.12 (1), p.3-3, Article 3
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Citrulline in the management of patients with urea cycle disorders
Author / Creator:Imbard, Apolline ; Bouchereau, Juliette ; Arnoux, Jean-Baptiste ; Brassier, Anaïs ; Schiff, Manuel ; Bérat, Claire-Marine ; Pontoizeau, Clément ; Benoist, Jean-François ; Josse, Constant ; Montestruc, François ; de Lonlay, Pascale
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2023-07, Vol.18 (1), p.207-207, Article 207
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Glucose Metabolism in 105 Children and Adolescents After Pancreatectomy for Congenital Hyperinsulinism
Author / Creator:Beltrand, Jacques ; Caquard, Marylène ; Arnoux, Jean-Baptiste ; Laborde, Kathleen ; Velho, Gilberto ; Verkarre, Virginie ; Rahier, Jacques ; Brunelle, Francis ; Nihoul-Fékété, Claire ; Saudubray, Jean-Marie ; Robert, Jean-Jacques ; de Lonlay, Pascale
Publisher:Alexandria, VA: American Diabetes Association
Journal title:Diabetes care, 2012-02, Vol.35 (2), p.198-203
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Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up
Author / Creator:Demaret, Tanguy ; Lacaille, Florence ; Wicker, Camille ; Arnoux, Jean-Baptiste ; Bouchereau, Juliette ; Belloche, Claire ; Gitiaux, Cyril ; Grevent, David ; Broissand, Christine ; Adjaoud, Dalila ; Abi Warde, Marie-Thérèse ; Plantaz, Dominique ; Bekri, Soumeya ; de Lonlay, Pascale ; Brassier, Anaïs
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-12, Vol.16 (1), p.507-507, Article 507
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Long-term renal outcome in methylmalonic acidemia in adolescents and adults
Author / Creator:Dao, Myriam ; Arnoux, Jean-Baptiste ; Bienaimé, Frank ; Brassier, Anaïs ; Brazier, François ; Benoist, Jean-François ; Pontoizeau, Clément ; Ottolenghi, Chris ; Krug, Pauline ; Boyer, Olivia ; de Lonlay, Pascale ; Servais, Aude
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-05, Vol.16 (1), p.220-220, Article 220
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Effects of a protein‐restricted diet on body weight and serum tyrosine concentrations in patients with alkaptonuria
Author / Creator:Olsson, Birgitta ; Ranganath, Lakshminarayan ; Arnoux, Jean‐Baptiste ; Imrich, Richard ; Milan, Anna ; Rudebeck, Mattias
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2022-01, Vol.63 (1), p.41-49
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Autism spectrum disorders in propionic acidemia patients
Author / Creator:de la Bâtie, Caroline Dejean ; Barbier, Valérie ; Roda, Célina ; Brassier, Anaïs ; Arnoux, Jean-Baptiste ; Valayannopoulos, Vassili ; Guemann, Anne-Sophie ; Pontoizeau, Clément ; Gobin, Stéphanie ; Habarou, Florence ; Lacaille, Florence ; Bonnefont, Jean-Paul ; Canouï, Pierre ; Ottolenghi, Chris ; De Lonlay, Pascale ; Ouss, Lisa
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2018-07, Vol.41 (4), p.623-629
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Disease burden among patients with Arginase 1 deficiency and their caregivers: A multinational, cross‐sectional survey
Author / Creator:Olofsson, Sara ; Löfvendahl, Sofia ; Widén, Julia ; Jacobson, Lena ; Lindgren, Peter ; Stepien, Karolina M. ; Arnoux, Jean‐Baptiste ; Luz Couce Pico, Maria ; Leão Teles, Elisa ; Rudebeck, Mattias
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2024-11, Vol.65 (6), p.450-460
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Improving the clinical accuracy and flexibility of the Alkaptonuria severity score index
Author / Creator:Cant, Harriet E. O. ; Chatzidaki, Iro ; Olsson, Birgitta ; Rudebeck, Mattias ; Arnoux, Jean‐Baptiste ; Imrich, Richard ; Eddowes, Lucy A. ; Ranganath, Lakshminarayan R.
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2022-07, Vol.63 (4), p.361-370
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Intravenous administration of a branched-chain amino-acid-free solution in children and adults with acute decompensation of maple syrup urine disease: a prospective multicentre observational study
Author / Creator:Alili, Jean-Meidi ; Berleur, Marie-Pierre ; Husson, Marie-Caroline ; Mention, Karine ; Schiff, Manuel ; Arnoux, Jean-Baptiste ; Brassier, Anaïs ; Guemman, Anne-Sophie ; Grisel, Coraline ; Dubois, Sandrine ; Abi-Wardé, Marie-Thérèse ; Broissand, Christine ; Servais, Aude ; Dao, Myriam ; de Lonlay, Pascale
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2022-05, Vol.17 (1), p.202-202, Article 202
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Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease
Author / Creator:Abi-Wardé, Marie-Thérèse ; Roda, Célina ; Arnoux, Jean-Baptiste ; Servais, Aude ; Habarou, Florence ; Brassier, Anais ; Pontoizeau, Clément ; Barbier, Valérie ; Bayart, Manuella ; Leboeuf, Virginie ; Chadefaux-Vekemans, Bernadette ; Dubois, Sandrine ; Assoun, Murielle ; Belloche, Claire ; Alili, Jean-Meidi ; Husson, Marie-Caroline ; Lesage, Fabrice ; Dupic, Laurent ; Theuil, Benoit ; Ottolenghi, Chris ; de Lonlay, Pascale
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2017-11, Vol.40 (6), p.783-792
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Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles
Author / Creator:Kuster, Alice ; Arnoux, Jean-Baptiste ; Barth, Magalie ; Lamireau, Delphine ; Houcinat, Nada ; Goizet, Cyril ; Doray, Bérénice ; Gobin, Stéphanie ; Schiff, Manuel ; Cano, Aline ; Amsallem, Daniel ; Barnerias, Christine ; Chaumette, Boris ; Plaze, Marion ; Slama, Abdelhamid ; Ioos, Christine ; Desguerre, Isabelle ; Lebre, Anne-Sophie ; de Lonlay, Pascale ; Christa, Laurence
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2018-01, Vol.41 (1), p.129-139
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Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France
Author / Creator:Lefèvre, Charles R. ; Labarthe, François ; Dufour, Diane ; Moreau, Caroline ; Faoucher, Marie ; Rollier, Paul ; Arnoux, Jean-Baptiste ; Tardieu, Marine ; Damaj, Léna ; Bendavid, Claude ; Dessein, Anne-Frédérique ; Acquaviva-Bourdain, Cécile ; Cheillan, David
Publisher:Switzerland: MDPI AG
Journal title:International journal of neonatal screening, 2023-02, Vol.9 (1), p.6
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Neurocognitive profiles in MSUD school-age patients
Author / Creator:Bouchereau, Juliette ; Leduc-Leballeur, Julie ; Pichard, Samia ; Imbard, Apolline ; Benoist, Jean-François ; Abi Warde, Marie-Thérèse ; Arnoux, Jean-Baptiste ; Barbier, Valérie ; Brassier, Anaïs ; Broué, Pierre ; Cano, Aline ; Chabrol, Brigitte ; Damon, Gilles ; Gay, Claire ; Guillain, Isabelle ; Habarou, Florence ; Lamireau, Delphine ; Ottolenghi, Chris ; Paermentier, Laetitia ; Sabourdy, Frédérique ; Touati, Guy ; Ogier de Baulny, Hélène ; de Lonlay, Pascale ; Schiff, Manuel
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2017-05, Vol.40 (3), p.377-383
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Effects of Nitisinone on Oxidative and Inflammatory Markers in Alkaptonuria: Results from SONIA1 and SONIA2 Studies
Author / Creator:Braconi, Daniela ; Geminiani, Michela ; Psarelli, Eftychia Eirini ; Giustarini, Daniela ; Marzocchi, Barbara ; Rossi, Ranieri ; Bernardini, Giulia ; Spiga, Ottavia ; Gallagher, James A. ; Le Quan Sang, Kim-Hanh ; Arnoux, Jean-Baptiste ; Imrich, Richard ; Al-Sbou, Mohammed S. ; Gornall, Matthew ; Jackson, Richard ; Ranganath, Lakshminarayan R. ; Santucci, Annalisa
Publisher:Switzerland: MDPI AG
Journal title:Cells (Basel, Switzerland), 2022-11, Vol.11 (22), p.3668
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Radiological evolution of spinal disease in alkaptonuria and the effect of nitisinone
Author / Creator:Imrich, Richard ; Sedláková, Jana ; Úlehlová, Mária ; Gornall, Matthew ; Jackson, Richard ; Olsson, Birgitta ; Rudebeck, Mattias ; Gallagher, James ; Lukáčová, Oľga ; Mlynáriková, Vanda ; Stančík, Roman ; Vrtíková, Eva ; Záňová, Elizabeth ; Zaťková, Andrea ; Arnoux, Jean-Baptiste ; Rovenský, Jozef ; Luangrath, Emily ; Bygott, Helen ; Khedr, Milad ; Ranganath, Lakshminarayan R
Publisher:London: EULAR
Journal title:Rheumatic & musculoskeletal diseases open, 2022-10, Vol.8 (2), p.e002422
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Administration of gamma‐hydroxybutyrate instead of beta‐hydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a medication prescribing...
Author / Creator:Tuchmann‐Durand, Caroline ; Thevenet, Eloise ; Moulin, Florence ; Lesage, Fabrice ; Bouchereau, Juliette ; Oualha, Mehdi ; Khraiche, Diala ; Brassier, Anaïs ; Wicker, Camille ; Gobin‐Limballe, Stéphanie ; Arnoux, Jean‐Baptiste ; Lacaille, Florence ; Wicart, Clotilde ; Coat, Bruno ; Schlattler, Joel ; Cisternino, Salvatore ; Renolleau, Sylvain ; Secretan, Philippe‐Henri ; De Lonlay, Pascale
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2020-01, Vol.51 (1), p.25-29
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Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families

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Congenital hyperinsulinism: current trends in diagnosis and therapy

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Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice

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Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood

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Citrulline in the management of patients with urea cycle disorders

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Glucose Metabolism in 105 Children and Adolescents After Pancreatectomy for Congenital Hyperinsulinism

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Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up

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Long-term renal outcome in methylmalonic acidemia in adolescents and adults

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Effects of a protein‐restricted diet on body weight and serum tyrosine concentrations in patients with alkaptonuria

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Autism spectrum disorders in propionic acidemia patients

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Disease burden among patients with Arginase 1 deficiency and their caregivers: A multinational, cross‐sectional survey

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Improving the clinical accuracy and flexibility of the Alkaptonuria severity score index

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Intravenous administration of a branched-chain amino-acid-free solution in children and adults with acute decompensation of maple syrup urine disease: a prospective multicentre observational study

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Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease

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Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles

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Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France

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Neurocognitive profiles in MSUD school-age patients

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Effects of Nitisinone on Oxidative and Inflammatory Markers in Alkaptonuria: Results from SONIA1 and SONIA2 Studies

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Radiological evolution of spinal disease in alkaptonuria and the effect of nitisinone

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Administration of gamma‐hydroxybutyrate instead of beta‐hydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a medication prescribing...

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