Hyperinsulinaemic hypoglycaemia: biochemical basis and the importance of maintaining normoglycaemia during management

Por Hussain, Khalid, Blankenstein, Oliver, De Lonlay, Pascale, Christesen, Henrik T
Publicado em 2007

Allo-Immune Membranous Nephropathy and Recombinant Aryl Sulfatase Replacement Therapy: A Need for Tolerance Induction Therapy

Por Debiec, Hanna, Valayannopoulos, Vassili, Boyer, Olivia, Nöel, Laure-Hélène, Callard, Patrice, Sarda, Hélène, de Lonlay, Pascale, Niaudet, Patrick, Ronco, Pierre
Publicado em 2014

Liver Engraftment and Repopulation by In Vitro Expanded Adult Derived Human Liver Stem Cells in a Child with Ornithine Carbamoyltransferase Deficiency

Por Sokal, Etienne M, Stéphenne, Xavier, Ottolenghi, Chris, Jazouli, Nawal, Clapuyt, Philippe, Lacaille, Florence, Najimi, Mustapha, de Lonlay, Pascale, Smets, Françoise
Publicado em 2013

Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders

Por Mollet, Julie, Giurgea, Irina, Schlemmer, Dimitri, Dallner, Gustav, Chretien, Dominique, Delahodde, Agnès, Bacq, Delphine, de Lonlay, Pascale, Munnich, Arnold, Rötig, Agnès
Publicado em 2007

In vitro insulin secretion by pancreatic tissue from infants with diazoxide-resistant congenital hyperinsulinism deviates from model predictions

Por Henquin, Jean-Claude, Nenquin, Myriam, Sempoux, Christine, Guiot, Yves, Bellanné-Chantelot, Christine, Otonkoski, Timo, de Lonlay, Pascale, Nihoul-Fékété, Claire, Rahier, Jacques
Publicado em 2011

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 em 2008

Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism

Por Saint-Martin, Cécile, Zhou, Qing, Martin, Gregory M., Vaury, Christelle, Leroy, Gwendoline, Arnoux, Jean-Baptiste, de Lonlay, Pascale, Shyng, Show-Ling, Bellanné-Chantelot, Christine
Publicado no Clin Genet (2014)

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 em 2013

Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under l-DOPA, 5-HT...

Por Mazzuca, Michel, Maubert, Marie-Anne, Damaj, Léna, Clot, Fabienne, Cadoudal, Marylène, Dubourg, Christele, Odent, Sylvie, Benoit, Jean François, Bahi-Buisson, Nadia, Christa, Laurence, de Lonlay, Pascale
Publicado no JIMD Rep (2015)

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 no J Clin Endocrinol Metab (2017)

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

Por Mollet, Julie, Delahodde, Agnès, Serre, Valérie, Chretien, Dominique, Schlemmer, Dimitri, Lombes, Anne, Boddaert, Nathalie, Desguerre, Isabelle, de Lonlay, Pascale, Ogier de Baulny, Hélène, Munnich, Arnold, Rötig, Agnès
Publicado em 2008

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 em 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 no Orphanet J Rare Dis (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 em 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 em 2012

Mutation in PNPT1, which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency

Por Vedrenne, Vanessa, Gowher, Ali, De Lonlay, Pascale, Nitschke, Patrick, Serre, Valérie, Boddaert, Nathalie, Altuzarra, Cecilia, Mager-Heckel, Anne-Marie, Chretien, Florence, Entelis, Nina, Munnich, Arnold, Tarassov, Ivan, Rötig, Agnès
Publicado em 2012

Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles

Por Pontoizeau, Clément, Habarou, Florence, Brassier, Anaïs, Veauville-Merllié, Alice, Grisel, Coraline, Arnoux, Jean-Baptiste, Vianey-Saban, Christine, Barouki, Robert, Chadefaux-Vekemans, Bernadette, Acquaviva, Cécile, de Lonlay, Pascale, Ottolenghi, Chris
Publicado no JIMD Rep (2015)

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 no Orphanet J Rare Dis (2016)

Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood

Por Zeharia, Avraham, Shaag, Avraham, Houtkooper, Riekelt H., Hindi, Tareq, de Lonlay, Pascale, Erez, Gilli, Hubert, Laurence, Saada, Ann, de Keyzer, Yves, Eshel, Gideon, Vaz, Frédéric M., Pines, Ophry, Elpeleg, Orly
Publicado em 2008

Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood

Por Zeharia, Avraham, Shaag, Avraham, Houtkooper, Riekelt H., Hindi, Tareq, de Lonlay, Pascale, Erez, Gilli, Hubert, Laurence, Saada, Ann, de Keyzer, Yves, Eshel, Gideon, Vaz, Frédéric M., Pines, Ophry, Elpeleg, Orly
Publicado em 2009