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
Published 2019-09-01

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
Published 2021-03-01

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
Published 2008-01-01

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
Published 2015-05-01

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
Published 2020-01-01

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
Published 2021-05-01

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
Published 2020-06-01

The compartmentalisation of phosphorylated free oligosaccharides in cells from a CDG Ig patient reveals a novel ER-to-cytosol translocation process.

by Delphine Peric, Christelle Durrant-Arico, Christophe Delenda, Thierry Dupré, Pascale De Lonlay, Hélène Ogier de Baulny, Cécile Pelatan, Brigitte Bader-Meunier, Olivier Danos, Isabelle Chantret, Stuart E H Moore
Published 2010-01-01

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
Published 2021-05-01

Normal human adipose tissue functions and differentiation in patients with biallelic LPIN1 inactivating mutations

by Michele Pelosi, Eric Testet, Soazig Le Lay, Isabelle Dugail, Xiaoyun Tang, Guillaume Mabilleau, Yamina Hamel, Marine Madrange, Thomas Blanc, Thierry Odent, Todd P.W. McMullen, Marco Alfò, David N. Brindley, Pascale de Lonlay
Published 2017-12-01

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
Published 2014-11-01

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
Published 2020-01-01

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
Published 2021-03-01