Search Results - Pascale de Lonlay

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  1. 1
    The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib

    The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib by Pascale de Lonlay, Nathalie Seta

    Published 2008
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  2. 2
    Hyperinsulinaemic hypoglycaemia: biochemical basis and the importance of maintaining normoglycaemia during management

    Hyperinsulinaemic hypoglycaemia: biochemical basis and the importance of maintaining normoglycaemia during management by Khalid Hussain, Oliver Blankenstein, Pascale de Lonlay, Henrik Thybo Christesen

    Published 2007
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  3. 3
    Arrhythmias and Conduction Defects as Presenting Symptoms of Fatty Acid Oxidation Disorders in Children

    Arrhythmias and Conduction Defects as Presenting Symptoms of Fatty Acid Oxidation Disorders in Children by Damien Bonnet, Delphine Martin, Pascale de Lonlay, E Villain, Philippe Jouvet, Daniel Rabier, M. Brivet, Jean‐Marie Saudubray

    Published 1999
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  4. 4
    Liver Engraftment and Repopulation by In Vitro Expanded Adult Derived Human Liver Stem Cells in a Child with Ornithine Carbamoyltransferase Deficiency

    Liver Engraftment and Repopulation by In Vitro Expanded Adult Derived Human Liver Stem Cells in a Child with Ornithine Carbamoyltransferase Deficiency by Étienne Sokal, Xavier Stéphenne, Chris Ottolenghi, Nawal Jazouli, Philippe Clapuyt, Florence Lacaille, Mustapha Najimi, Pascale de Lonlay, Françoise Smets

    Published 2013
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  5. 5
    Update of mutations in the genes encoding the pancreatic beta-cell K<sub>ATP</sub>channel subunits Kir6.2 (<i>KCNJ11</i>) and sulfonylurea receptor 1 (<i>ABCC8</i>) in diabetes mellitus and hyperinsulinism

    Update of mutations in the genes encoding the pancreatic beta-cell K<sub>ATP</sub>channel subunits Kir6.2 (<i>KCNJ11</i>) and sulfonylurea receptor 1 (<i>ABCC8</i>) in diabetes mel... by Sarah E. Flanagan, Séverine Clauin, Christine Bellanné‐Chantelot, Pascale de Lonlay, Lorna W. Harries, Anna L. Gloyn, Sian Ellard

    Published 2008
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  6. 6
    Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis

    Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis by Christine Barnérias, Jean‐Marie Saudubray, Guy Touati, Pascale de Lonlay, Olivier Dulac, G Ponsot, C. Marsac, M. Brivet, Isabelle Desguerre

    Published 2009
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  7. 7
    Morphological Mosaicism of the Pancreatic Islets: A Novel Anatomopathological Form of Persistent Hyperinsulinemic Hypoglycemia of Infancy

    Morphological Mosaicism of the Pancreatic Islets: A Novel Anatomopathological Form of Persistent Hyperinsulinemic Hypoglycemia of Infancy by Christine Sempoux, Carmen Capito, Christine Bellanné‐Chantelot, Virginie Verkarre, Pascale de Lonlay, Y. Aigrain, C Fekete, Yves Guiot, Jacques Rahier

    Published 2011
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  8. 8
    Allo-Immune Membranous Nephropathy and Recombinant Aryl Sulfatase Replacement Therapy

    Allo-Immune Membranous Nephropathy and Recombinant Aryl Sulfatase Replacement Therapy by Hanna Dębiec, Vassili Valayannopoulos, Olivia Boyer, Laure‐Hélène Noël, P Callard, H Sarda, Pascale de Lonlay, Patrick Niaudet, Pierre Ronco

    Published 2013
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  9. 9
    Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders

    Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders by Julie Mollet, Irina Giurgea, Dimitri Schlemmer, Gustav Dallner, Dominique Chrétien, Agnés Delahodde, Delphine Bacq, Pascale de Lonlay, Arnold Münnich, Agnès Rötig

    Published 2007
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  10. 10
    Epilepsy in Menkes Disease: Analysis of Clinical Stages

    Epilepsy in Menkes Disease: Analysis of Clinical Stages by Nadia Bahi‐Buisson, Anna Kaminśka, Rima Nabbout, Christine Barnérias, Isabelle Desguerre, Pascale de Lonlay, M. Mayer, Perrine Plouin, Olivier Dulac, Catherine Chiron

    Published 2006
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  11. 11
    In vitro insulin secretion by pancreatic tissue from infants with diazoxide-resistant congenital hyperinsulinism deviates from model predictions

    In vitro insulin secretion by pancreatic tissue from infants with diazoxide-resistant congenital hyperinsulinism deviates from model predictions by Jean‐Claude Henquin, Myriam Nenquin, Christine Sempoux, Yves Guiot, Christine Bellanné‐Chantelot, Timo Otonkoski, Pascale de Lonlay, Claire Nihoul‐Feketé, Jacques Rahier

    Published 2011
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  12. 12
    A High Rate (20%–30%) of Parental Consanguinity in Cytochrome-Oxidase Deficiency

    A High Rate (20%–30%) of Parental Consanguinity in Cytochrome-Oxidase Deficiency by Jürgen‐Christoph von Kleist-Retzow, Valérie Cormier‐Daire, Pascale de Lonlay, Béatrice Parfait, Dominique Chrétien, Pierre Rustin, Josué Feingold, Agnès Rötig, Arnold Münnich

    Published 1998
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  13. 13
    Mutations in UCP2 in Congenital Hyperinsulinism Reveal a Role for Regulation of Insulin Secretion

    Mutations in UCP2 in Congenital Hyperinsulinism Reveal a Role for Regulation of Insulin Secretion by M. Mar González‐Barroso, Irina Giurgea, Frédéric Bouillaud, Andrea Anedda, Christine Bellanné‐Chantelot, Laurence Hubert, Yves de Keyzer, Pascale de Lonlay, Daniel Ricquier

    Published 2008
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  14. 14
    Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1 and NDUFS1 Genes in Mitochondrial Complex I Deficiency

    Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1 and NDUFS1 Genes in Mitochondrial Complex I Deficiency by Paule Bénit, Dominique Chrétien, N. Kadhom, Pascale de Lonlay-Debeney, Valérie Cormier‐Daire, Aguinaldo Cabral, Sylviane Peudenier, Pierre Rustin, Arnold Münnich, Agnès Rötig

    Published 2001
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  15. 15
    Phosphomannose Isomerase Deficiency: A Carbohydrate-Deficient Glycoprotein Syndrome with Hepatic-Intestinal Presentation

    Phosphomannose Isomerase Deficiency: A Carbohydrate-Deficient Glycoprotein Syndrome with Hepatic-Intestinal Presentation by Jaak Jaeken, Gert Matthijs, Jean‐Marie Saudubray, Carlo Dionisi‐Vici, Enrico Bertini, Pascale de Lonlay, Hugues Henri, Hubert Carchon, Els Schollen, Emile Van Schaftingen

    Published 1998
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  16. 16
    Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling

    Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling by Alexandra Lopes Costa, Carole Le Bachelier, Lise Mathieu, Agnès Rötig, Avihu Boneh, Pascale de Lonlay, Mark A. Tarnopolsky, David R. Thorburn, Jean Bastin, Fatima Djouadi

    Published 2013
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  17. 17
    Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia

    Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia by Lisa G. Riley, Minal Menezes, Joëlle Rudinger‐Thirion, Rachael M. Duff, Pascale de Lonlay, Agnès Rötig, Michel Tchan, Mark R. Davis, Sandra T. Cooper, John Christodoulou

    Published 2013
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  18. 18
    Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

    Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy by Paule Bénit, Réjane Beugnot, Dominique Chrétien, Irina Giurgea, Pascale de Lonlay-Debeney, Jean‐Paul Issartel, Marisol Corral‐Debrinski, Stefan Kerscher, Pierre Rustin, Agnès Rötig, Arnold Münnich

    Published 2003
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  19. 19
    Hyperinsulinism/Hyperammonemia Syndrome in Children with Regulatory Mutations in the Inhibitory Guanosine Triphosphate-Binding Domain of Glutamate Dehydrogenase1

    Hyperinsulinism/Hyperammonemia Syndrome in Children with Regulatory Mutations in the Inhibitory Guanosine Triphosphate-Binding Domain of Glutamate Dehydrogenase1 by Courtney MacMullen, Jie Fang, Betty Y.L. Hsu, Andrea Kelly, Pascale de Lonlay-Debeney, Jean‐Marie Saudubray, Arupa Ganguly, Thomas J. Smith, Charles A. Stanley

    Published 2001
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  20. 20
    Methylmalonic and propionic acidurias: Management without or with a few supplements of specific amino acid mixture

    Methylmalonic and propionic acidurias: Management without or with a few supplements of specific amino acid mixture by Guy Touati, Vassili Valayannopoulos, Karine Mention, Pascale de Lonlay, Philippe Jouvet, Eliane Depondt, Murielle Assoun, J.C. Souberbielle, Daniel Rabier, H. Ogier de Baulny, Jean Marie Saudubray

    Published 2006
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