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133 results for De+Lonlay,+Pascale

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ArticlesPeer ReviewedFull Text
Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
Author / Creator:Witters, Peter ; Honzik, Tomas ; Bauchart, Eric ; Altassan, Ruqaiah ; Pascreau, Tiffany ; Bruneel, Arnaud ; Vuillaumier, Sandrine ; Seta, Nathalie ; Borgel, Delphine ; Matthijs, Gert ; Jaeken, Jaak ; Meersseman, Wouter ; Cassiman, David ; Pascale de, Lonlay ; Morava, Eva
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-05, Vol.21 (5), p.1181-1188
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Congenital hyperinsulinism: current trends in diagnosis and therapy
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2011-10, Vol.6 (1), p.63-63, Article 63
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Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy
Author / Creator:Cartault, François ; Munier, Patrick ; Benko, Edgar ; Desguerre, Isabelle ; Hanein, Sylvain ; Boddaert, Nathalie ; Bandiera, Simonetta ; Vellayoudom, Jeanine ; Krejbich-Trotot, Pascale ; Bintner, Marc ; Hoarau, Jean-Jacques ; Girard, Muriel ; Génin, Emmanuelle ; de Lonlay, Pascale ; Fourmaintraux, Alain ; Naville, Magali ; Rodriguez, Diana ; Feingold, Josué ; Renouil, Michel ; Munnich, Arnold ; Westhof, Eric ; Fähling, Michael ; Lyonnet, Stanislas ; Henrion-Caude, Alexandra
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2012-03, Vol.109 (13), p.4980-4985
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Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice
Author / Creator: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
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2022-06, Vol.13 (1), p.3278-3278, Article 3278
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Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion
Author / Creator:Bourdon, Alice ; Minai, Limor ; Serre, Valérie ; Jais, Jean-Philippe ; Sarzi, Emmanuelle ; Aubert, Sophie ; Chrétien, Dominique ; de Lonlay, Pascale ; Paquis-Flucklinger, Véronique ; Arakawa, Hirofumi ; Nakamura, Yusuke ; Munnich, Arnold ; Rötig, Agnès
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2007-06, Vol.39 (6), p.776-780
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Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood
Author / Creator:Mauhin, Wladimir ; Habarou, Florence ; Gobin, Stéphanie ; Servais, Aude ; Brassier, Anaïs ; Grisel, Coraline ; Roda, Célina ; Pinto, Graziella ; Moshous, Despina ; Ghalim, Fahd ; Krug, Pauline ; Deltour, Nelly ; Pontoizeau, Clément ; Dubois, Sandrine ; Assoun, Murielle ; Galmiche, Louise ; Bonnefont, Jean-Paul ; Ottolenghi, Chris ; de Blic, Jacques ; Arnoux, Jean-Baptiste ; de Lonlay, Pascale
Publisher:England: BioMed Central
Journal title:Orphanet journal of rare diseases, 2017-01, Vol.12 (1), p.3-3, Article 3
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Citrulline in the management of patients with urea cycle disorders
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2023-07, Vol.18 (1), p.207-207, Article 207
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Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy
Author / Creator:Bénit, Paule ; Beugnot, Réjane ; Chretien, Dominique ; Giurgea, Irina ; De Lonlay-Debeney, Pascale ; Issartel, Jean-Paul ; Corral-Debrinski, Marisol ; Kerscher, Stefan ; Rustin, Pierre ; Rötig, Agnès ; Munnich, Arnold
Publisher:New York: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2003-06, Vol.21 (6), p.582-586
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Glucose Metabolism in 105 Children and Adolescents After Pancreatectomy for Congenital Hyperinsulinism
Author / Creator: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
Publisher:Alexandria, VA: American Diabetes Association
Journal title:Diabetes care, 2012-02, Vol.35 (2), p.198-203
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Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-12, Vol.16 (1), p.507-507, Article 507
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Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study
Author / Creator:Cavadias, Iphigénie ; Viaud, Magali ; Falampin, Marie ; Cheikhelard, Alaa ; Gueniche, Karinne ; Ouallouche, Chloé ; Samara-Boustani, Dinane ; Bonnet, Damien ; Bahi-Buisson, Nadia ; Quartier-dit-Maire, Pierre ; Hadj-Rabia, Smaïl ; Heidet, Laurence ; Allali, Slimane ; de Lonlay, Pascale ; Amiel, Jeanne ; Nabbout, Rima ; Moshous, Despina ; Cormier-Daire, Valérie ; Picard, Arnaud ; Desguerre, Isabelle ; Sermet-Gaudelus, Isabelle ; Pinto, Graziella ; Bremond-Gignac, Dominique ; Ruemmele, Frank ; Girard, Muriel ; Abadie, Véronique ; James, Syril ; Harroche, Annie ; Polak, Michel ; Da Costa, Sabrina
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2025-03, Vol.20 (1), p.117-9, Article 117
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Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2015-05, Vol.10 (1), p.58-58, Article 58
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Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival
Author / Creator:Barcia, Giulia ; Rio, Marlène ; Assouline, Zahra ; Zangarelli, Coralie ; Roux, Charles-Joris ; de Lonlay, Pascale ; Steffann, Julie ; Desguerre, Isabelle ; Munnich, Arnold ; Bonnefont, Jean-Paul ; Boddaert, Nathalie ; Rötig, Agnès ; Metodiev, Metodi D. ; Ruzzenente, Benedetta
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-03, Vol.29 (3), p.533-538
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Long-term renal outcome in methylmalonic acidemia in adolescents and adults
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-05, Vol.16 (1), p.220-220, Article 220
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Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders
Author / Creator:Mollet, Julie ; Giurgea, Irina ; Schlemmer, Dimitri ; Dallner, Gustav ; Chretien, Dominique ; Delahodde, Agnès ; Bacq, Delphine ; de Lonlay, Pascale ; Munnich, Arnold ; Rötig, Agnès
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2007-03, Vol.117 (3), p.765-772
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Dodecyl creatine ester-loaded nanoemulsion as a promising therapy for creatine transporter deficiency
Author / Creator:Ullio-Gamboa, Gabriela ; Udobi, Kenea C ; Dezard, Sophie ; Perna, Marla K ; Miles, Keila N ; Costa, Narciso ; Taran, Frédéric ; Pruvost, Alain ; Benoit, Jean-Pierre ; Skelton, Matthew R ; Lonlay, Pascale de ; Mabondzo, Aloïse
Publisher:England: Future Medicine Ltd
Journal title:Nanomedicine (London, England), 2019-06, Vol.14 (12), p.1579-1593
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Natural history of Barth syndrome: a national cohort study of 22 patients
Author / Creator:Rigaud, Charlotte ; Lebre, Anne-Sophie ; Touraine, Renaud ; Beaupain, Blandine ; Ottolenghi, Chris ; Chabli, Allel ; Ansquer, Helene ; Ozsahin, Hulya ; Di Filippo, Sylvie ; De Lonlay, Pascale ; Borm, Betina ; Rivier, Francois ; Vaillant, Marie-Catherine ; Mathieu-Dramard, Michèle ; Goldenberg, Alice ; Viot, Géraldine ; Charron, Philippe ; Rio, Marlene ; Bonnet, Damien ; Donadieu, Jean
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2013-05, Vol.8 (1), p.70-70
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Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients
Author / Creator:Lebigot, Elise ; Brassier, Anaïs ; Zater, Mokhtar ; Imanci, Dilek ; Feillet, François ; Thérond, Patrice ; de Lonlay, Pascale ; Boutron, Audrey
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2015-09, Vol.38 (5), p.881-887
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In vitro insulin secretion by pancreatic tissue from infants with diazoxide-resistant congenital hyperinsulinism deviates from model predictions
Author / Creator:Henquin, Jean-Claude ; Nenquin, Myriam ; Sempoux, Christine ; Guiot, Yves ; Bellanné-Chantelot, Christine ; Otonkoski, Timo ; de Lonlay, Pascale ; Nihoul-Fékété, Claire ; Rahier, Jacques
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2011-10, Vol.121 (10), p.3932-3942
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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 observational study
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2022-05, Vol.17 (1), p.202-202, Article 202
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Showing 1 to 20 of 133 results

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Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?

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Congenital hyperinsulinism: current trends in diagnosis and therapy

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Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy

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

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Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

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Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood

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Citrulline in the management of patients with urea cycle disorders

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Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

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

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

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Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study

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

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Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival

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

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

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Dodecyl creatine ester-loaded nanoemulsion as a promising therapy for creatine transporter deficiency

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Natural history of Barth syndrome: a national cohort study of 22 patients

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Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients

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

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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 observational study

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