Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: (1)H NMR spectroscopy and genetic testing

por Bouchemal, Nadia, Ouss, Lisa, Brassier, Anaïs, Barbier, Valérie, Gobin, Stéphanie, Hubert, Laurence, de Lonlay, Pascale, Le Moyec, Laurence
Publicado 2019

Transcultural mediation programme in a paediatric hospital in France: qualitative and quantitative study of participants’ experience and impact on hospital costs

por Lachal, Jonathan, Escaich, Mélanie, Bouznah, Serge, Rousselle, Clémence, De Lonlay, Pascale, Canoui, Pierre, Moro, Marie-Rose, Durand-Zaleski, Isabelle
Publicado 2019

Puberty and fertility in classic galactosemia

por Flechtner, Isabelle, Viaud, Magali, Kariyawasam, Dulanjalee, Perrissin-Fabert, Marie, Bidet, Maud, Bachelot, Anne, Touraine, Philippe, Labrune, Philippe, de Lonlay, Pascale, Polak, Michel
Publicado 2021

Mutations in UCP2 in Congenital Hyperinsulinism Reveal a Role for Regulation of Insulin Secretion

por González-Barroso, M. Mar, Giurgea, Irina, Bouillaud, Fredéric, Anedda, Andrea, Bellanné-Chantelot, Christine, Hubert, Laurence, de Keyzer, Yves, de Lonlay, Pascale, Ricquier, Daniel
Publicado 2008

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia

por Riley, Lisa G, Menezes, Minal J, Rudinger-Thirion, Joëlle, Duff, Rachael, de Lonlay, Pascale, Rotig, Agnes, Tchan, Michel C, Davis, Mark, Cooper, Sandra T, Christodoulou, John
Publicado 2013

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

por Moravej, Hossein, Altassan, Ruqaiah, Jaeken, Jaak, Enns, Gregory M., Ellaway, Carolyn, Balasubramaniam, Shanti, De Lonlay, Pascale, Coman, David, Mercimek‐Andrews, Saadet, Witters, Peter, Morava, Eva
Publicado 2019

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

Constitutive Activation of AKT2 in Humans Leads to Hypoglycemia Without Fatty Liver or Metabolic Dyslipidemia

por Minic, Marina, Rocha, Nuno, Harris, Julie, Groeneveld, Matthijs P., Leiter, Sarah, Wareham, Nicholas, Sleigh, Alison, De Lonlay, Pascale, Hussain, Khalid, O’Rahilly, Stephen, Semple, Robert K.
Publicado 2017

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

In Vitro Recovery of ATP-Sensitive Potassium Channels in β-Cells From Patients With Congenital Hyperinsulinism of Infancy

por Powell, Philippa D., Bellanné-Chantelot, Christine, Flanagan, Sarah E., Ellard, Sian, Rooman, Raoul, Hussain, Khalid, Skae, Mars, Clayton, Peter, de Lonlay, Pascale, Dunne, Mark J., Cosgrove, Karen E.
Publicado 2011

Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001–2013

por Unsinn, Caroline, Das, Anibh, Valayannopoulos, Vassili, Thimm, Eva, Beblo, Skadi, Burlina, Alberto, Konstantopoulou, Vassiliki, Mayorandan, Sebene, de Lonlay, Pascale, Rennecke, Jörg, Derbinski, Jens, Hoffmann, Georg F., Häberle, Johannes
Publicado 2016

The Compartmentalisation of Phosphorylated Free Oligosaccharides in Cells from a CDG Ig Patient Reveals a Novel ER-to-Cytosol Translocation Process

por Peric, Delphine, Durrant-Arico, Christelle, Delenda, Christophe, Dupré, Thierry, De Lonlay, Pascale, de Baulny, Hélène Ogier, Pelatan, Cécile, Bader-Meunier, Brigitte, Danos, Olivier, Chantret, Isabelle, Moore, Stuart E. H.
Publicado 2010

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

Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy

por Cafournet, Cérane, Zanin, Sofia, Guimier, Anne, Hully, Marie, Assouline, Zahra, Barcia, Giulia, de Lonlay, Pascale, Steffann, Julie, Munnich, Arnold, Bonnefont, Jean-Paul, Rötig, Agnès, Ruzzenente, Benedetta, Metodiev, Metodi D.
Publicado 2023

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

Familial Focal Congenital Hyperinsulinism

por Ismail, Dunia, Smith, Virpi V., de Lonlay, Pascale, Ribeiro, Maria-Joao, Rahier, Jacques, Blankenstein, Oliver, Flanagan, Sarah E., Bellanné-Chantelot, Christine, Verkarre, Virginie, Aigrain, Yves, Pierro, Agostino, Ellard, Sian, Hussain, Khalid
Publicado 2011

Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia

por Marelli, Cecilia, Fouilhoux, Alain, Benoist, Jean‐Francois, De Lonlay, Pascale, Guffon‐Fouilhoux, Nathalie, Brassier, Anais, Cano, Aline, Chabrol, Brigitte, Pennisi, Alessandra, Schiff, Manuel, Acquaviva, Cecile, Murphy, Elaine, Servais, Aude, Lachmann, Robin
Publicado 2022

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