Guy Touati

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.

Authors:

Carolina Uggenti Alice Lepelley Marine Depp Andrew P Badrock Mathieu P Rodero Marie-Thérèse El-Daher Gillian I Rice Somdutta Dhir Ann P Wheeler Ashish Dhir Waad Albawardi Marie-Louise Frémond Luis Seabra Jennifer Doig Natalie Blair Maria José Martin-Niclos Erika Della Mina Alejandro Rubio-Roldán Jose L García-Pérez Duncan Sproul Jan Rehwinkel Jonny Hertzog Anne Boland-Auge Robert Olaso Jean-François Deleuze Julien Baruteau Karine Brochard Jonathan Buckley Vanessa Cavallera Cristina Cereda Liesbeth M H De Waele Angus Dobbie Diane Doummar Frances Elmslie Margarete Koch-Hogrebe Ram Kumar Kate Lamb John H Livingston Anirban Majumdar Charles Marques Lorenço Simona Orcesi Sylviane Peudenier Kevin Rostasy Caroline A Salmon Christiaan Scott Davide Tonduti Guy Touati Marialuisa Valente Hélio van der Linden Hilde Van Esch Marie Vermelle Kate Webb Andrew P Jackson Martin A M Reijns Nick Gilbert Yanick J Crow

Nat Genet 2020 12 23;52(12):1364-1372. Epub 2020 Nov 23.

Centre for Genomic and Experimental Medicine, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK.

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December 2020

Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders.

Mol Genet Metab 2020 06 19;130(2):110-117. Epub 2020 Mar 19.

Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, APHP, Imagine Institute, Paris Descartes University, Paris, France.

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June 2020

Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted Diet.

J Pediatr 2020 05 4;220:184-192.e6. Epub 2020 Mar 4.

Department of Epidemiology and Health Economics, AP-HM/EA 3279 CEReSS (Centre d'Etude et de Recherche sur les Services de Santé et la Qualité de vie), Aix-Marseille Univ, Marseille, France.

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May 2020

First Report of a Patient with MPS Type VII, Due to Novel Mutations in , Who Underwent Enzyme Replacement and Then Hematopoietic Stem Cell Transplantation.

Authors:

Patricia Dubot Frédérique Sabourdy Geneviève Plat Charlotte Jubert Claude Cancès Pierre Broué Guy Touati Thierry Levade

Int J Mol Sci 2019 Oct 28;20(21). Epub 2019 Oct 28.

Laboratoire de Biochimie Métabolique, Centre de Référence en Maladies Héréditaires du Métabolisme, Institut Fédératif de Biologie, CHU de Toulouse, 31059 Toulouse cedex 9, France.

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October 2019

Long-term outcome of methylmalonic aciduria after kidney, liver, or combined liver-kidney transplantation: The French experience.

J Inherit Metab Dis 2020 03 11;43(2):234-243. Epub 2020 Feb 11.

Reference Center of Inherited Metabolic Diseases, Hôpital Universitaire Necker-Enfants Malades, APHP, Imagine Institute, Filière G2M, MetabERN, INEM, University Paris Descartes, Paris, France.

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March 2020

Pregnancy outcome in Refsum disease: Affected fetuses and children born to an affected mother.

Authors:

Patricia Dubot Léonardo Astudillo Guy Touati Julien Baruteau Pierre Broué Sandrine Roche Frédérique Sabourdy Thierry Levade

JIMD Rep 2019 Mar 14;46(1):11-15. Epub 2019 Mar 14.

Laboratoire de Biochimie Métabolique Centre de Référence en Maladies Héréditaires du Métabolisme, Institut Fédératif de Biologie, CHU de Toulouse Toulouse France.

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March 2019

Betaine anhydrous in homocystinuria: results from the RoCH registry.

Orphanet J Rare Dis 2019 03 14;14(1):66. Epub 2019 Mar 14.

CHRU de Tours, Service de Médecine Interne, Université François Rabelais, Tours, France.

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March 2019

Long-term liver disease in methylmalonic and propionic acidemias.

Authors:

Apolline Imbard Nuria Garcia Segarra Marine Tardieu Pierre Broué Juliette Bouchereau Samia Pichard Hélène Ogier de Baulny Abdelhamid Slama Charlotte Mussini Guy Touati Marie Danjoux Pauline Gaignard Hannes Vogel François Labarthe Manuel Schiff Jean-François Benoist

Mol Genet Metab 2018 04 7;123(4):433-440. Epub 2018 Feb 7.

Biochemistry Laboratory, APHP, Robert Debré University Hospital, Paris, France; Paris Sud University, Chatenay Malabry, France. Electronic address:

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April 2018

Neurocognitive profiles in MSUD school-age patients.

J Inherit Metab Dis 2017 05 21;40(3):377-383. Epub 2017 Mar 21.

Reference Centre for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, 48 boulevard Sérurier, 75019, Paris, France.

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May 2017

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

Authors:

Stéphanie Paquay Agnès Bourillon Samia Pichard Jean-François Benoist Pascale de Lonlay Dries Dobbelaere Alain Fouilhoux Nathalie Guffon Isabelle Rouvet François Labarthe Karine Mention Guy Touati Vassili Valayannopoulos Hélène Ogier de Baulny Monique Elmaleh-Bergès Cécile Acquaviva-Bourdain Christine Vianey-Saban Manuel Schiff

J Inherit Metab Dis 2017 05 2;40(3):415-422. Epub 2017 Mar 2.

Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, 48 Bd Sérurier, Paris, F-75935 Cedex 19, France.

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May 2017

Severe respiratory complex III defect prevents liver adaptation to prolonged fasting.

Authors:

Laura S Kremer Caroline L'hermitte-Stead Pierre Lesimple Mylène Gilleron Sandrine Filaut Claude Jardel Tobias B Haack Tim M Strom Thomas Meitinger Hatem Azzouz Neji Tebib Hélène Ogier de Baulny Guy Touati Holger Prokisch Anne Lombès

J Hepatol 2016 08 2;65(2):377-85. Epub 2016 May 2.

Inserm UMR 1016, Institut Cochin, Paris, France; CNRS UMR 8104, Institut Cochin, Paris, France; Université Paris V René Descartes, Institut Cochin, Paris, France. Electronic address:

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August 2016

[Hereditary peroxisomal diseases].

Authors:

Leonardo Astudillo Frédérique Sabourdy Guy Touati Thierry Levade

Presse Med 2016 Mar 18;45(3):302-12. Epub 2016 Feb 18.

Institut national de la santé et de la recherche médicale (Inserm) UMR1037, Toulouse, France; Université de Toulouse, centre de recherches en cancérologie de Toulouse (CRCT), Toulouse, France; CHU Purpan, institut fédératif de biologie, laboratoire de biochimie métabolique, Toulouse, France; Centre de compétence des maladies héréditaires du métabolisme Sud-Ouest, Toulouse, France. Electronic address:

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March 2016

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

Authors:

Anais Brassier Stephanie Gobin Jean Baptiste Arnoux Vassili Valayannopoulos Florence Habarou Manoelle Kossorotoff Aude Servais Valerie Barbier Sandrine Dubois Guy Touati Robert Barouki Fabrice Lesage Laurent Dupic Jean Paul Bonnefont Chris Ottolenghi Pascale De Lonlay

Orphanet J Rare Dis 2015 May 10;10:58. Epub 2015 May 10.

Reference Center of Inherited Metabolic Diseases and units of metabolism and neurology, 149 rue de Sèvres, 75015, Paris, France.

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May 2015

Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.

Authors:

Mathilde Nizon Chris Ottolenghi Vassili Valayannopoulos Jean-Baptiste Arnoux Valérie Barbier Florence Habarou Isabelle Desguerre Nathalie Boddaert Jean-Paul Bonnefont Cécile Acquaviva Jean-François Benoist Daniel Rabier Guy Touati Pascale de Lonlay

Orphanet J Rare Dis 2013 Sep 23;8:148. Epub 2013 Sep 23.

Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker-Enfants Malades, APHP, Université Paris Descartes, Institut Imagine, Paris, France.

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September 2013

Topography of brain damage in metabolic hypoglycaemia is determined by age at which hypoglycaemia occurred.

Authors:

Svetlana Gataullina Pascale De Lonlay Georges Dellatolas Vassili Valayannapoulos Silvia Napuri Léna Damaj Guy Touati Cecila Altuzarra Olivier Dulac Nathalie Boddaert

Dev Med Child Neurol 2013 Feb 4;55(2):162-6. Epub 2012 Dec 4.

Neuropediatrics Department, Necker-Enfants Malades Hospital, AP-HP, Paris, France.

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February 2013

Comorbidity and metabolic context are crucial factors determining neurological sequelae of hypoglycaemia.

Authors:

Svetlana Gataullina Georges Dellatolas Hervé Perdry Jean-Jacques Robert Vassili Valayannopoulos Guy Touati Chris Ottolenghi Olivier Dulac Pascale De Lonlay

Dev Med Child Neurol 2012 Nov 27;54(11):1012-7. Epub 2012 Aug 27.

Neuropediatrics Department, Necker-Enfants Malades Hospital, Paris, France.

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November 2012

Should transcobalamin deficiency be treated aggressively?

Authors:

Manuel Schiff Hélène Ogier de Baulny Ghislaine Bard Vincent Barlogis Christian Hamel Stuart J Moat Sylvie Odent Graham Shortland Guy Touati Stéphane Giraudier

J Inherit Metab Dis 2010 Jun 30;33(3):223-9. Epub 2010 Mar 30.

Service de Neuropédiatrie & Maladies Métaboliques, Centre de référence Maladies Métaboliques, CHU Robert Debré, APHP, Paris, France.

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June 2010

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

Authors:

Christine Barnerias Jean-Marie Saudubray Guy Touati Pascale De Lonlay Olivier Dulac Gerard Ponsot Cécile Marsac Michèle Brivet Isabelle Desguerre

Dev Med Child Neurol 2010 Feb 1;52(2):e1-9. Epub 2009 Dec 1.

Neuropaediatric Unit, Necker Hospital, AP-HP, Paris, France.

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February 2010

Cardiomyopathies in propionic aciduria are reversible after liver transplantation.

Authors:

Stéphane Romano Vassili Valayannopoulos Guy Touati Jean-Pierre Jais Daniel Rabier Yves de Keyzer Damien Bonnet Pascale de Lonlay

J Pediatr 2010 Jan;156(1):128-34

Metabolic Unit and Reference Center of Metabolic Diseases, Hôpital Necker-Enfants Malades, Université Paris Descartes, Paris, France.

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January 2010

Management of West syndrome in a patient with methylmalonic aciduria.

Authors:

Philippe M Campeau Vassili Valayannopoulos Guy Touati Nadia Bahi-Buisson Nathalie Boddaert Perrine Plouin Daniel Rabier Jean-François Benoist Olivier Dulac Pascale de Lonlay Isabelle Desguerre

J Child Neurol 2010 Jan 21;25(1):94-7. Epub 2009 Aug 21.

Department of Human Genetics, McGill University, Montreal, Canada.

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January 2010

Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria.

Authors:

Yves de Keyzer Vassili Valayannopoulos Jean-François Benoist Frédéric Batteux Florence Lacaille Laurence Hubert Dominique Chrétien Bernadette Chadefeaux-Vekemans Patrick Niaudet Guy Touati Arnold Munnich Pascale de Lonlay

Pediatr Res 2009 Jul;66(1):91-5

Metabolic Unit and Paediatric Department, Hôpital Necker-Enfants Malades, INSERM-U781, University Paris Descartes, Paris, France.

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July 2009

Spectrum of movement disorders associated with glutaric aciduria type 1: a study of 16 patients.

Authors:

Cyril Gitiaux Emmanuel Roze Kiyoka Kinugawa Constance Flamand-Rouvière Nathalie Boddaert Emmanuelle Apartis Vassili Valayannopoulos Guy Touati Jacques Motte David Devos Karine Mention Dries Dobbelaere Diana Rodriguez Agathe Roubertie Brigitte Chabrol François Feillet Marie Vidailhet Nadia Bahi-Buisson

Mov Disord 2008 Dec;23(16):2392-7

Université Paris-Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP-HP, Paris, France.

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December 2008

Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease.

Authors:

Vassili Valayannopoulos Nanda M Verhoeven Karine Mention Gajja S Salomons Danièle Sommelet Marie Gonzales Guy Touati Pascale de Lonlay Cornelis Jakobs Jean-Marie Saudubray

J Pediatr 2006 Nov;149(5):713-7

Metabolic Unit, Necker-Enfants Malades Hospital and the Fetopathology Department, Saint Antoine Hospital, Paris, France.

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November 2006

Impact of inborn errors of metabolism on admission and mortality in a pediatric intensive care unit.

Authors:

Philippe Jouvet Guy Touati Fabrice Lesage Laurent Dupic Marisa Tucci Jean Marie Saudubray Philippe Hubert

Eur J Pediatr 2007 May 29;166(5):461-5. Epub 2006 Aug 29.

Pediatric Intensive Care Unit, Sainte-Justine Hospital, Montreal, Quebec, Canada.

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May 2007

Mitochondrial respiratory chain deficiencies expressing the enzymatic deficiency in the hepatic tissue: a study of 31 patients.

Authors:

Angels Garcia-Cazorla Pascale De Lonlay Pierre Rustin Dominique Chretien Guy Touati Daniel Rabier Abdel Slama Jean Marie Saudubray

J Pediatr 2006 Sep;149(3):401-405

Metabolic Diseases Unit, Department of Pediatrics and Biochemistry, Centre Hospitalier Universitaire Necker Enfants-Malades, Université René Descartes, Paris, France.

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September 2006

Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects.

Authors:

Angels García-Cazorla Daniel Rabier Guy Touati Bernadette Chadefaux-Vekemans Cécile Marsac Pascale de Lonlay Jean-Marie Saudubray

Ann Neurol 2006 Jan;59(1):121-7

Metabolic Diseases Unit, Centre Hospitalier Universitaire Necker Enfants-Malades, Paris, France.

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January 2006

[Radiological innovations in the screening and diagnosis of the inborn errors of metabolism].

Authors:

Nathalie Boddaert Maria Ribeiro Guy Touati Karine Mention Vassili Valayanopoulos Claire Nihoul-Fékété Francis Brunelle Pascale de Lonlay

Med Sci (Paris) 2005 Nov;21(11):981-6

Service de radiologie pédiatrique, ERM 0205, Hôpital Necker Enfants-Malades, 149, rue de Sèvres, 75743 Paris Cedex 15, France.

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November 2005

Factitious hyperinsulinism leading to pancreatectomy: severe forms of Munchausen syndrome by proxy.

Authors:

Irina Giurgea Tim Ulinski Guy Touati Christine Sempoux Fanny Mochel Francis Brunelle Jean-Marie Saudubray Claire Fekete Pascale de Lonlay

Pediatrics 2005 Jul;116(1):e145-8

Department of Metabolic Disorders, Hôpital Necker Enfants Malades, 75015 Paris, France.

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July 2005

Respiratory chain defects may present only with hypoglycemia.

Authors:

Fanny Mochel Abdelhamid Slama Guy Touati Isabelle Desguerre Irina Giurgea Daniel Rabier Michele Brivet Pierre Rustin Jean-Marie Saudubray Pascale DeLonlay

J Clin Endocrinol Metab 2005 Jun 22;90(6):3780-5. Epub 2005 Mar 22.

Service des Maladies Métaboliques, Hôpital Necker Enfants-Malades, 149 rue de Sèvres, Paris 75015, France.

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June 2005

Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy.

Authors:

Fanny Mochel Pascale DeLonlay Guy Touati Henri Brunengraber Renee P Kinman Daniel Rabier Charles R Roe Jean-Marie Saudubray

Mol Genet Metab 2005 Apr;84(4):305-12

Metabolic Unit, Departments of Pediatrics and Biochemistry, Hospital Necker-Enfants Malades, Paris, France.

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April 2005

Hyperinsulinemic hypoglycemia in children.

Authors:

P de Lonlay Irina Giurgea Jean-Jacques Robert Jean-Christophe Fournet Guy Touati Claire Nihoul-Fékété Francis Brunelle Francis Jaubert Jacques Rahier Christine Sempoux Claudine Junien Jean-Marie Saudubray Mark Dunne Timo Otonkoski Maria Ribeiro Christine Bellané-Chantelot

Ann Endocrinol (Paris) 2004 Feb;65(1):96-8

Necker Hospital, Paris, France.

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February 2004

Neonatal hypoglycaemia: aetiologies.

Authors:

Pascale de Lonlay Irina Giurgea Guy Touati Jean-Marie Saudubray

Semin Neonatol 2004 Feb;9(1):49-58

Department of Paediatrics, Hôpital Necker -- Enfants Malades, 149 rue de Sèvres, 75743 Paris cedex 15, France.

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February 2004

Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism.

Authors:

Irina Giurgea Kathleen Laborde Guy Touati Christine Bellanné-Chantelot Marie-Cecile Nassogne Christine Sempoux Francis Jaubert Nguyen Khoa Valerie Chigot Jacques Rahier Francis Brunelle Claire Nihoul-Fékété Mark J Dunne Charles Stanley Jean-Marie Saudubray Jean-Jacques Robert Pascale de Lonlay

J Clin Endocrinol Metab 2004 Feb;89(2):925-9

Department of Pediatrics, Hôpital Necker Enfants Malades, 75743 Paris, France.

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February 2004

A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis.

Authors:

Sandrine Haut Michèle Brivet Guy Touati Pierre Rustin Sophie Lebon Angela Garcia-Cazorla Jean Marie Saudubray Audrey Boutron Alain Legrand Abdelhamid Slama

Hum Genet 2003 Jul 23;113(2):118-22. Epub 2003 Apr 23.

Laboratoire de Biochimie 1, AP-HP Hôpital de Bicêtre, 78 Rue du Général Leclerc, Cédex, 94275 Le Kremlin Bicetre, France.

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July 2003

Splicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation.

Authors:

Manuèle Miné Michèle Brivet Guy Touati Paula Grabowski Marc Abitbol Cécile Marsac

J Biol Chem 2003 Apr 27;278(14):11768-72. Epub 2003 Jan 27.

Laboratoire Centre de Recherche Thérapeutique en Ophtalmologie, Faculté de Médecine Necker, 156 rue de Vaugirard 75015 Paris, France.

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April 2003

Massive subdural haematomas in Menkes disease mimicking shaken baby syndrome.

Authors:

Marie-Cécile Nassogne Mark Sharrard Lucie Hertz-Pannier Didier Armengaud Guy Touati Pascale Delonlay-Debeney Michel Zerah Francis Brunelle Jean-Marie Saudubray

Childs Nerv Syst 2002 Dec 27;18(12):729-31. Epub 2002 Jul 27.

Service de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, Avenue Hippocrate 10/1062, 1200 Brussels, Belgium.

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December 2002

Facial appearance in persistent hyperinsulinemic hypoglycemia.

Authors:

Pascale de Lonlay Valérie Cormier-Daire Jeanne Amiel Guy Touati Alice Goldenberg Jean-Christophe Fournet Francis Brunelle Claire Nihoul-Fékété Jacques Rahier Claudine Junien Jean-Jacques Robert Jean-Marie Saudubray

Am J Med Genet 2002 Aug;111(2):130-3

Département de Pédiatrie, INSERM-U383, Hôpital Necker-Enfants Malades, Paris, France.

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August 2002

Persistent hyperinsulinaemic hypoglycaemia.

Authors:

Pascale de Lonlay Guy Touati Jean-Jacques Robert Jean-Marie Saudubray

Semin Neonatol 2002 Feb;7(1):95-100

Department of Pediatrics, Hôpital Necker-Enfants Malades, Paris, France.

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February 2002

Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases.

Eur J Pediatr 2002 Jan;161(1):37-48

Federation de Pédiatrie, Hôpital Necker-Enfants-Malades, Paris, France.

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January 2002

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