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133 results for De+Lonlay,+Pascale

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Select record 21
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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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Select record 27
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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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Select record 28
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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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Select record 29
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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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Select record 30
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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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Select record 31
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Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era
Author / Creator:Bui, Mai Thao ; Fernández-Eulate, Gorka ; Evangelista, Teresinha ; Lacène, Emmanuelle ; Brochier, Guy ; Labasse, Clémence ; Madelaine, Angéline ; Chanut, Anaïs ; Beuvin, Maud ; Borsato-Levy, Favienne ; Biancalana, Valérie ; Barcia, Giulia ; De Lonlay, Pascale ; Laporte, Jocelyn ; Böhm, Johann ; Romero, Norma Beatriz
Publisher:England: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2024-12, Vol.12 (1), p.191-12, Article 191
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Select record 32
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Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: 1H NMR spectroscopy and genetic testing
Author / Creator:Bouchemal, Nadia ; Ouss, Lisa ; Brassier, Anaïs ; Barbier, Valérie ; Gobin, Stéphanie ; Hubert, Laurence ; de Lonlay, Pascale ; Le Moyec, Laurence
Publisher:London: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2019-09, Vol.14 (1), p.222-222, Article 222
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Select record 33
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Transcultural mediation programme in a paediatric hospital in France: qualitative and quantitative study of participants’ experience and impact on hospital costs
Author / Creator:Lachal, Jonathan ; Escaich, Mélanie ; Bouznah, Serge ; Rousselle, Clémence ; De Lonlay, Pascale ; Canoui, Pierre ; Moro, Marie-Rose ; Durand-Zaleski, Isabelle
Publisher:England: British Medical Journal Publishing Group
Journal title:BMJ open, 2019-11, Vol.9 (11), p.e032498-e032498
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Select record 34
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Mutations in UCP2 in Congenital Hyperinsulinism Reveal a Role for Regulation of Insulin Secretion
Author / Creator:González-Barroso, M. Mar ; Giurgea, Irina ; Bouillaud, Fredéric ; Anedda, Andrea ; Bellanné-Chantelot, Christine ; Hubert, Laurence ; de Keyzer, Yves ; de Lonlay, Pascale ; Ricquier, Daniel
Publisher:United States: Public Library of Science
Journal title:PloS one, 2008-12, Vol.3 (12), p.e3850-e3850
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Select record 35
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Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy
Author / Creator: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.
Publisher:Switzerland: MDPI AG
Journal title:Life (Basel, Switzerland), 2023-02, Vol.13 (2), p.445
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Select record 36
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Inborn errors of metabolism underlying primary immunodeficiencies
Author / Creator:Parvaneh, Nima ; Quartier, Pierre ; Rostami, Parastoo ; Casanova, Jean-Laurent ; de Lonlay, Pascale
Publisher:Boston: Springer US
Journal title:Journal of clinical immunology, 2014-10, Vol.34 (7), p.753-771
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Select record 37
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Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate
Author / Creator:Djouadi, Fatima ; Habarou, Florence ; Le Bachelier, Carole ; Ferdinandusse, Sacha ; Schlemmer, Dimitri ; Benoist, Jean François ; Boutron, Audrey ; Andresen, Brage S. ; Visser, Gepke ; de Lonlay, Pascale ; Olpin, Simon ; Fukao, Toshiyuki ; Yamaguchi, Seiji ; Strauss, Arnold W. ; Wanders, Ronald J. A. ; Bastin, Jean
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2016-01, Vol.39 (1), p.47-58
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Select record 38
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A Thermolabile Aldolase A Mutant Causes Fever-Induced Recurrent Rhabdomyolysis without Hemolytic Anemia
Author / Creator:Mamoune, Asmaa ; Bahuau, Michel ; Hamel, Yamina ; Serre, Valérie ; Pelosi, Michele ; Habarou, Florence ; Nguyen Morel, Marie-Ange ; Boisson, Bertrand ; Vergnaud, Sabrina ; Viou, Mai Thao ; Nonnenmacher, Luc ; Piraud, Monique ; Nusbaum, Patrick ; Vamecq, Joseph ; Romero, Norma ; Ottolenghi, Chris ; Casanova, Jean-Laurent ; de Lonlay, Pascale
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2014-11, Vol.10 (11), p.e1004711
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Select record 39
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Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis
Author / Creator:Paquay, Stéphanie ; Bourillon, Agnès ; Pichard, Samia ; Benoist, Jean-François ; de Lonlay, Pascale ; Dobbelaere, Dries ; Fouilhoux, Alain ; Guffon, Nathalie ; Rouvet, Isabelle ; Labarthe, François ; Mention, Karine ; Touati, Guy ; Valayannopoulos, Vassili ; Ogier de Baulny, Hélène ; Elmaleh-Bergès, Monique ; Acquaviva-Bourdain, Cécile ; Vianey-Saban, Christine ; Schiff, Manuel
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2017-05, Vol.40 (3), p.415-422
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Select record 40
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Real‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid‐free formulas in France and Germany: A retrospective observational study
Author / Creator:de Lonlay, Pascale ; Posset, Roland ; Mütze, Ulrike ; Mention, Karine ; Lamireau, Delphine ; Schiff, Manuel ; Servais, Aude ; Arnoux, Jean Baptiste ; Brassier, Anaïs ; Dao, Myriam ; Douillard, Claire ; Ottolenghi, Chris ; Pontoizeau, Clément ; Miotto, Federica ; Le Mouhaër, Jeannie
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2021-05, Vol.59 (1), p.110-119
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Showing 21 to 40 of 133 results

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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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Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era

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

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

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

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

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Inborn errors of metabolism underlying primary immunodeficiencies

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Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate

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A Thermolabile Aldolase A Mutant Causes Fever-Induced Recurrent Rhabdomyolysis without Hemolytic Anemia

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Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis

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Real‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid‐free formulas in France and Germany: A retrospective observational study

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