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

por Olsson, Birgitta, Ranganath, Lakshminarayan, Arnoux, Jean‐Baptiste, Imrich, Richard, Milan, Anna, Rudebeck, Mattias
Publicado 2021

Sebelipase alfa for lysosomal acid lipase deficiency: 5‐year treatment experience from a phase 2 open‐label extension study

por Malinová, Vĕra, Balwani, Manisha, Sharma, Reena, Arnoux, Jean‐Baptiste, Kane, John, Whitley, Chester B., Marulkar, Sachin, Abel, Florian
Publicado 2020

Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families

por Banerjee, Indraneel, Raskin, Julie, Arnoux, Jean-Baptiste, De Leon, Diva D., Weinzimer, Stuart A., Hammer, Mette, Kendall, David M., Thornton, Paul S.
Publicado 2022

Correction to: Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families

por Banerjee, Indraneel, Raskin, Julie, Arnoux, Jean-Baptiste, De Leon, Diva D., Weinzimer, Stuart A., Hammer, Mette, Kendall, David M., Thornton, Paul S.
Publicado 2022

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

por Cant, Harriet E. O., Chatzidaki, Iro, Olsson, Birgitta, Rudebeck, Mattias, Arnoux, Jean‐Baptiste, Imrich, Richard, Eddowes, Lucy A., Ranganath, Lakshminarayan R.
Publicado 2022

ZnT8 Is a Major CD8(+) T Cell–Recognized Autoantigen in Pediatric Type 1 Diabetes

por Énée, Émmanuelle, Kratzer, Roland, Arnoux, Jean-Baptiste, Barilleau, Emilie, Hamel, Yamina, Marchi, Christophe, Beltrand, Jacques, Michaud, Bénédicte, Chatenoud, Lucienne, Robert, Jean-Jacques, van Endert, Peter
Publicado 2012

Citrulline in the management of patients with urea cycle disorders

por 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
Publicado 2023

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

por 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
Publicado 2021

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

por 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
Publicado 2012

Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study

por Husson, Marie-Caroline, Schiff, Manuel, Fouilhoux, Alain, Cano, Aline, Dobbelaere, Dries, Brassier, Anais, Mention, Karine, Arnoux, Jean-Baptiste, Feillet, François, Chabrol, Brigitte, Guffon, Nathalie, Elie, Caroline, de Lonlay, Pascale
Publicado 2016

Infectious and digestive complications in glycogen storage disease type Ib: Study of a French cohort

por Wicker, Camille, Roda, Célina, Perry, Ariane, Arnoux, Jean Baptiste, Brassier, Anais, Castelle, Martin, Servais, Aude, Donadieu, Jean, Bouchereau, Juliette, Pigneur, Bénédicte, Labrune, Philippe, Ruemmele, Frank M., de Lonlay, Pascale
Publicado 2020

Congenital hyperinsulinism: current trends in diagnosis and therapy

por 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
Publicado 2011

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

por 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
Publicado 2023

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

por Nizon, Mathilde, Ottolenghi, Chris, Valayannopoulos, Vassili, Arnoux, Jean-Baptiste, Barbier, Valérie, Habarou, Florence, Desguerre, Isabelle, Boddaert, Nathalie, Bonnefont, Jean-Paul, Acquaviva, Cécile, Benoist, Jean-François, Rabier, Daniel, Touati, Guy, de Lonlay, Pascale
Publicado 2013

Real‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid‐free formulas in France and Germany: A retrospective observationa...

por de Lonlay, Pascale, Posset, Roland, Mütze, Ulrike, Mention, Karine, Lamireau, Delphine, Schiff, Manuel, Servais, Aude, Arnoux, Jean Baptiste, Brassier, Anaïs, Dao, Myriam, Douillard, Claire, Ottolenghi, Chris, Pontoizeau, Clément, Miotto, Federica, Le Mouhaër, Jeannie
Publicado 2021

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

por 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
Publicado 2021

Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening

por Hajji, Hela, Imbard, Apolline, Spraul, Anne, Taibi, Ludmia, Barbier, Valérie, Habes, Dalila, Brassier, Anaïs, Arnoux, Jean-Baptiste, Bouchereau, Juliette, Pichard, Samia, Sissaoui, Samira, Lacaille, Florence, Girard, Muriel, Debray, Dominique, de Lonlay, Pascale, Schiff, Manuel
Publicado 2022

Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients

por Brassier, Anais, Gobin, Stephanie, Arnoux, Jean Baptiste, Valayannopoulos, Vassili, Habarou, Florence, Kossorotoff, Manoelle, Servais, Aude, Barbier, Valerie, Dubois, Sandrine, Touati, Guy, Barouki, Robert, Lesage, Fabrice, Dupic, Laurent, Bonnefont, Jean Paul, Ottolenghi, Chris, De Lonlay, Pascale
Publicado 2015

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

por 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
Publicado 2022

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 obs...

por 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
Publicado 2022