Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: 1H NMR spectroscopy and genetic testing by Nadia Bouchemal, Lisa Ouss, Anaïs Brassier, Valérie Barbier, Stéphanie Gobin, Laurence Hubert, Pascale de Lonlay, Laurence Le Moyec

Get full text

Puberty and fertility in classic galactosemia by Isabelle Flechtner, Magali Viaud, Dulanjalee Kariyawasam, Marie Perrissin-Fabert, Maud Bidet, Anne Bachelot, Philippe Touraine, Philippe Labrune, Pascale de Lonlay, Michel Polak

Get full text

Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion. by M Mar González-Barroso, Irina Giurgea, Fredéric Bouillaud, Andrea Anedda, Christine Bellanné-Chantelot, Laurence Hubert, Yves de Keyzer, Pascale de Lonlay, Daniel Ricquier

Get full text

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients by Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, Gregory M. Enns, Carolyn Ellaway, Shanti Balasubramaniam, Pascale De Lonlay, David Coman, Saadet Mercimek‐Andrews, Peter Witters, Eva Morava

Get full text

Acute rhabdomyolysis by Pascale de Lonlay, Asmaa Mamoune, Yamina Hamel, Michel Bahuau, Sabrina Vergnaud, Moniqu Piraud, Lætitia Lallemand, Marie-Ange Nguyen More, Mai Thao Vio, Norma Beatriz Romero

Get full text

Citrulline in the management of patients with urea cycle disorders by Apolline Imbard, Juliette Bouchereau, Jean-Baptiste Arnoux, Anaïs Brassier, Manuel Schiff, Claire-Marine Bérat, Clément Pontoizeau, Jean-François Benoist, Constant Josse, François Montestruc, Pascale de Lonlay

Get full text

Long-term renal outcome in methylmalonic acidemia in adolescents and adults by Myriam Dao, Jean-Baptiste Arnoux, Frank Bienaimé, Anaïs Brassier, François Brazier, Jean-François Benoist, Clément Pontoizeau, Chris Ottolenghi, Pauline Krug, Olivia Boyer, Pascale de Lonlay, Aude Servais

Get full text

Infectious and digestive complications in glycogen storage disease type Ib: Study of a French cohort by Camille Wicker, Célina Roda, Ariane Perry, Jean Baptiste Arnoux, Anais Brassier, Martin Castelle, Aude Servais, Jean Donadieu, Juliette Bouchereau, Bénédicte Pigneur, Philippe Labrune, Frank M. Ruemmele, Pascale de Lonlay

Get full text

Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy by Cérane Cafournet, Sofia Zanin, Anne Guimier, Marie Hully, Zahra Assouline, Giulia Barcia, Pascale de Lonlay, Julie Steffann, Arnold Munnich, Jean-Paul Bonnefont, Agnès Rötig, Benedetta Ruzzenente, Metodi D. Metodiev

Get full text

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

Get full text

Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening by Hela Hajji, Apolline Imbard, Anne Spraul, Ludmia Taibi, Valérie Barbier, Dalila Habes, Anaïs Brassier, Jean-Baptiste Arnoux, Juliette Bouchereau, Samia Pichard, Samira Sissaoui, Florence Lacaille, Muriel Girard, Dominique Debray, Pascale de Lonlay, Manuel Schiff

Get full text

Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice by Clément Pontoizeau, Marcelo Simon-Sola, Clovis Gaborit, Vincent Nguyen, Irina Rotaru, Nolan Tual, Pasqualina Colella, Muriel Girard, Maria-Grazia Biferi, Jean-Baptiste Arnoux, Agnès Rötig, Chris Ottolenghi, Pascale de Lonlay, Federico Mingozzi, Marina Cavazzana, Manuel Schiff

Get full text

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... by Jean-Meidi Alili, Marie-Pierre Berleur, Marie-Caroline Husson, Karine Mention, Manuel Schiff, Jean-Baptiste Arnoux, Anaïs Brassier, Anne-Sophie Guemman, Coraline Grisel, Sandrine Dubois, Marie-Thérèse Abi-Wardé, Christine Broissand, Aude Servais, Myriam Dao, Pascale de Lonlay

Get full text

A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia. by Asmaa Mamoune, Michel Bahuau, Yamina Hamel, Valérie Serre, Michele Pelosi, Florence Habarou, Marie-Ange Nguyen Morel, Bertrand Boisson, Sabrina Vergnaud, Mai Thao Viou, Luc Nonnenmacher, Monique Piraud, Patrick Nusbaum, Joseph Vamecq, Norma Romero, Chris Ottolenghi, Jean-Laurent Casanova, Pascale de Lonlay

Get full text

TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioning by Hortense de Calbiac, Sebastian Montealegre, Marjolène Straube, Solène Renault, Hugo Debruge, Loïc Chentout, Sorana Ciura, Apolline Imbard, Edouard Le Guillou, Anca Marian, Nicolas Goudin, Laure Caccavelli, Sylvie Fabrega, Arnaud Hubas, Peter van Endert, Nicolas Dupont, Julien Diana, Edor Kabashi, Pascale de Lonlay

Get full text

Administration of gamma‐hydroxybutyrate instead of beta‐hydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a med... by Caroline Tuchmann‐Durand, Eloise Thevenet, Florence Moulin, Fabrice Lesage, Juliette Bouchereau, Mehdi Oualha, Diala Khraiche, Anaïs Brassier, Camille Wicker, Stéphanie Gobin‐Limballe, Jean‐Baptiste Arnoux, Florence Lacaille, Clotilde Wicart, Bruno Coat, Joel Schlattler, Salvatore Cisternino, Sylvain Renolleau, Philippe‐Henri Secretan, Pascale De Lonlay

Get full text

Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency? by Perrine Renard, Laure Caccavelli, Antoine Legendre, Caroline Tuchmann-Durand, David Balakirouchenane, Benoit Blanchet, Céline Narjoz, Marjolène Straube, Arnaud Hubas, Alexa Garros, Karine Mention, Nathalie Bednarek, Nicolas Goudin, Christine Broissand, Joel Schlatter, Salvatore Cisternino, Nicolas Cagnard, Peter van Endert, Julien Diana, Hortense de Calbiac, Pascale de Lonlay

Get full text

Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohort by Claire-Marine Bérat, Célina Roda, Anais Brassier, Juliette Bouchereau, Camille Wicker, Aude Servais, Sandrine Dubois, Murielle Assoun, Claire Belloche, Valérie Barbier, Virginie Leboeuf, François M. Petit, Pauline Gaignard, Elise Lebigot, Pierre-Jean Bérat, Clément Pontoizeau, Guy Touati, Cécile Talbotec, Florence Campeotto, Chris Ottolenghi, Jean-Baptiste Arnoux, Pascale de Lonlay pascale

Get full text