Publications by authors named "Guy Touati"

39Publications

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

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

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

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

Long-term liver disease in methylmalonic and propionic acidemias.

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

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

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].

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

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

Should transcobalamin deficiency be treated aggressively?

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

Cardiomyopathies in propionic aciduria are reversible after liver transplantation.

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

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

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.

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

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

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

Respiratory chain defects may present only with hypoglycemia.

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.

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

Neonatal hypoglycaemia: aetiologies.

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

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

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.

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.

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

Persistent hyperinsulinaemic hypoglycaemia.

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

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

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February 2002