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ArticlesPeer ReviewedFull Text
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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Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies
Author / Creator:Barcia, Giulia ; Chemaly, Nicole ; Gobin‐Limballe, Stéphanie ; Losito, Emma ; Aubart, Mélodie ; Sarda, Eugénie ; Assouline, Zahra ; Plante‐Bordeneuve, Pauline ; Hully, Marie ; Barrois, Remi ; Barnerias, Christine ; Sareidaki, Doxa ; Zeitoun, Delphine Coste ; Eisermann, Monika ; Fourrage, Cécile ; Hanein, Sylvain ; Rio, Marlène ; Boddaert, Nathalie ; Desguerre, Isabelle ; Kaminska, Anna ; Steffann, Julie ; Nabbout, Rima
Publisher:United States
Journal title:Epilepsia open, 2025-05
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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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Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition
Author / Creator:Rio, Marlène ; Malan, Valérie ; Boissel, Sarah ; Toutain, Annick ; Royer, Ghislaine ; Gobin, Stéphanie ; Morichon-Delvallez, Nicole ; Turleau, Catherine ; Bonnefont, Jean-Paul ; Munnich, Arnold ; Vekemans, Michel ; Colleaux, Laurence
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2010-03, Vol.18 (3), p.285-290
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Administration of gamma‐hydroxybutyrate instead of beta‐hydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a medication prescribing...
Author / Creator:Tuchmann‐Durand, Caroline ; Thevenet, Eloise ; Moulin, Florence ; Lesage, Fabrice ; Bouchereau, Juliette ; Oualha, Mehdi ; Khraiche, Diala ; Brassier, Anaïs ; Wicker, Camille ; Gobin‐Limballe, Stéphanie ; Arnoux, Jean‐Baptiste ; Lacaille, Florence ; Wicart, Clotilde ; Coat, Bruno ; Schlattler, Joel ; Cisternino, Salvatore ; Renolleau, Sylvain ; Secretan, Philippe‐Henri ; De Lonlay, Pascale
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2020-01, Vol.51 (1), p.25-29
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Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies
Author / Creator:de Becdelièvre, Alix ; Costa, Catherine ; LeFloch, Annick ; Legendre, Marie ; Jouannic, Jean-Marie ; Vigneron, Jacqueline ; Bresson, Jean-Luc ; Gobin, Stéphanie ; Martin, Josiane ; Goossens, Michel ; Girodon, Emmanuelle
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2010-10, Vol.18 (10), p.1166-1169
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Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency
Author / Creator:Thuillier, Laure ; Rostane, Hidayeth ; Droin, Veronique ; Demaugre, France ; Brivet, Michèle ; Kadhom, Noman ; Prip-Buus, Carina ; Gobin, Stéphanie ; Saudubray, Jean-Marie ; Bonnefont, Jean-Paul
Publisher:New York: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2003-05, Vol.21 (5), p.493-501
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ArticlesPeer ReviewedFull Text
Dilated Cardiomyopathy and Premature Ovarian Failure Unveiling Propionic Aciduria
Author / Creator:Grotto, Sarah ; Sudrié-Arnaud, Bénédicte ; Drouin-Garraud, Valérie ; Nafeh-Bizet, Catherine ; Chadefaux-Vekemans, Bernadette ; Gobin, Stéphanie ; Bekri, Soumeya ; Tebani, Abdellah
Publisher:England: Oxford University Press
Journal title:Clinical chemistry (Baltimore, Md.), 2018-04, Vol.64 (4), p.752-754
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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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ArticlesPeer ReviewedFull Text
Autism spectrum disorders in propionic acidemia patients
Author / Creator:de la Bâtie, Caroline Dejean ; Barbier, Valérie ; Roda, Célina ; Brassier, Anaïs ; Arnoux, Jean-Baptiste ; Valayannopoulos, Vassili ; Guemann, Anne-Sophie ; Pontoizeau, Clément ; Gobin, Stéphanie ; Habarou, Florence ; Lacaille, Florence ; Bonnefont, Jean-Paul ; Canouï, Pierre ; Ottolenghi, Chris ; De Lonlay, Pascale ; Ouss, Lisa
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2018-07, Vol.41 (4), p.623-629
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ArticlesPeer ReviewedFull Text
Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles
Author / Creator:Kuster, Alice ; Arnoux, Jean-Baptiste ; Barth, Magalie ; Lamireau, Delphine ; Houcinat, Nada ; Goizet, Cyril ; Doray, Bérénice ; Gobin, Stéphanie ; Schiff, Manuel ; Cano, Aline ; Amsallem, Daniel ; Barnerias, Christine ; Chaumette, Boris ; Plaze, Marion ; Slama, Abdelhamid ; Ioos, Christine ; Desguerre, Isabelle ; Lebre, Anne-Sophie ; de Lonlay, Pascale ; Christa, Laurence
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2018-01, Vol.41 (1), p.129-139
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ArticlesPeer ReviewedFull Text
Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: 1 H 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:England: BioMed Central
Journal title:Orphanet journal of rare diseases, 2019-09, Vol.14 (1), p.222
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ArticlesPeer ReviewedFull Text
Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy
Author / Creator:Barth, Magalie ; Ottolenghi, Chris ; Hubert, Laurence ; Chrétien, Dominique ; Serre, Valérie ; Gobin, Stéphanie ; Romano, Stéphane ; Vassault, Anne ; Sefiani, Aziz ; Ricquier, Daniel ; Boddaert, Nathalie ; Brivet, Michèle ; de Keyzer, Yves ; Munnich, Arnold ; Duran, Marinus ; Rabier, Daniel ; Valayannopoulos, Vassili ; de Lonlay, Pascale
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.443-453
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ArticlesPeer ReviewedFull Text
Notable contribution of large gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies
Author / Creator:Girodon, Emmanuelle ; de Becdelièvre, Alix ; Costa, Catherine ; Lefloch, Annick ; Legendre, Marie ; Jouannic, Jean-Marie ; Vigneron, Jacqueline ; Bresson, Jean-Luc ; Gobin, Stéphanie ; Martin, Josiane ; Goossens, Michel
Publisher:Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2010-05
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ArticlesPeer ReviewedFull Text
Organization of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia
Author / Creator:Gobin, Stéphanie ; Bonnefont, Jean-Paul ; Prip-Buus, Carina ; Mugnier, Claude ; Ferrec, Magali ; Demaugre, France ; Saudubray, Jean-Marie ; Rostane, Hidayeth ; Djouadi, Fatima ; Wilcox, William ; Cederbaum, Stephen ; Haas, Richard ; Nyhan, William L. ; Green, Anne ; Gray, George ; Girard, Jean ; Thuillier, Laure
Publisher:Heidelberg: Springer
Journal title:Human genetics, 2002-08, Vol.111 (2), p.179-189
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Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
Author / Creator:Mignot, Cyril ; McMahon, Aoife C. ; Bar, Claire ; Campeau, Philippe M. ; Davidson, Claire ; Buratti, Julien ; Nava, Caroline ; Jacquemont, Marie-Line ; Tallot, Marilyn ; Milh, Mathieu ; Edery, Patrick ; Marzin, Pauline ; Barcia, Giulia ; Barnerias, Christine ; Besmond, Claude ; Bienvenu, Thierry ; Bruel, Ange-Line ; Brunga, Ledia ; Ceulemans, Berten ; Coubes, Christine ; Cristancho, Ana G. ; Cunningham, Fiona ; Dehouck, Marie-Bertille ; Donner, Elizabeth J. ; Duban-Bedu, Bénédicte ; Dubourg, Christèle ; Gardella, Elena ; Gauthier, Julie ; Geneviève, David ; Gobin-Limballe, Stéphanie ; Goldberg, Ethan M. ; Hagebeuk, Eveline ; Hamdan, Fadi F. ; Hančárová, Miroslava ; Hubert, Laurence ; Ioos, Christine ; Ichikawa, Shoji ; Janssens, Sandra ; Journel, Hubert ; Kaminska, Anna ; Keren, Boris ; Koopmans, Marije ; Lacoste, Caroline ; Laššuthová, Petra ; Lederer, Damien ; Lehalle, Daphné ; Marjanovic, Dragan ; Métreau, Julia ; Michaud, Jacques L. ; Miller, Kathryn ; Minassian, Berge A. ; Morales, Joannella ; Moutard, Marie-Laure ; Munnich, Arnold ; Ortiz-Gonzalez, Xilma R. ; Pinard, Jean-Marc ; Prchalová, Darina ; Putoux, Audrey ; Quelin, Chloé ; Rosen, Alyssa R. ; Roume, Joelle ; Rossignol, Elsa ; Simon, Marleen E. H. ; Smol, Thomas ; Shur, Natasha ; Shelihan, Ivan ; Štěrbová, Katalin ; Vyhnálková, Emílie ; Vilain, Catheline ; Soblet, Julie ; Smits, Guillaume ; Yang, Samuel P. ; van der Smagt, Jasper J. ; van Hasselt, Peter M. ; van Kempen, Marjan ; Weckhuysen, Sarah ; Helbig, Ingo ; Villard, Laurent ; Héron, Delphine ; Koeleman, Bobby ; Møller, Rikke S. ; Lesca, Gaetan ; Helbig, Katherine L. ; Nabbout, Rima ; Verbeek, Nienke E. ; Depienne, Christel
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-08, Vol.21 (8), p.1897-1898
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ReportsFull Text
Administration of gamma-hydroxybutyrate instead of beta-hydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a medication prescribing...
Author / Creator:Tuchmann-Durand, Caroline ; Thevenet, Eloise ; Moulin, Florence ; Lesage, Fabrice ; Bouchereau, Juliette ; Oualha, Mehdi ; Khraiche, Diala ; Brassier, Anaïs ; Wicker, Camille ; Gobin-Limballe, Stéphanie ; Arnoux, Jean-Baptiste ; Lacaille, Florence ; Wicart, Clotilde ; Coat, Bruno ; Schlattler, Joel ; Cisternino, Salvatore ; Renolleau, Sylvain ; Secretan, Philippe-Henri ; De Lonlay, Pascale
Journal title:JIMD reports, 2020, Vol.51 (1), p.25-29
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Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood

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Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies

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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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Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

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Administration of gamma‐hydroxybutyrate instead of beta‐hydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a medication prescribing...

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Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies

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Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency

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Dilated Cardiomyopathy and Premature Ovarian Failure Unveiling Propionic Aciduria

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

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Autism spectrum disorders in propionic acidemia patients

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Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles

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

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Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy

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Notable contribution of large gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies

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Organization of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia

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Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

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Administration of gamma-hydroxybutyrate instead of beta-hydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a medication prescribing...

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