Publications by authors named "Abdelhamid Slama"

52Publications

Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia.

Mol Genet Metab 2021 Jan 28;132(1):38-43. Epub 2020 Nov 28.

Department of Biochemistry, Reference Center for Mitochondrial Disease, FILNEMUS, Bicêtre University Hospital, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France; Lip(Sys)2, University of Paris-Saclay, Chatenay-Malabry, France. Electronic address:

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January 2021

Mitochondrial dysfunction caused by novel ATAD3A mutations.

Mol Genet Metab 2020 Sep - Oct;131(1-2):107-113. Epub 2020 Sep 9.

Biochemistry Department, Hôpital Bicêtre, APHP Université Paris-Saclay, Le Kremlin Bicêtre F-94275, France. Electronic address:

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September 2020

Mitochondrial myopathy associated with anti-programmed cell death 1 therapy.

Eur J Cancer 2019 Mar 14;110:71-73. Epub 2019 Feb 14.

Dermatology Unit, Oncology Department, Gustave Roussy cancer campus, Villejuif, France; Paris-Sud University, Kremlin Bicêtre, France. Electronic address:

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March 2019

Steroids in Stroke with Special Reference to Progesterone.

Cell Mol Neurobiol 2019 May 9;39(4):551-568. Epub 2018 Oct 9.

U1195 Inserm and University Paris-Sud and University Paris-Saclay, 80 rue du Général Leclerc, 94276, Le Kremlin-Bicêtre, France.

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May 2019

Intranasal administration of progesterone: A potential efficient route of delivery for cerebroprotection after acute brain injuries.

Neuropharmacology 2019 02 6;145(Pt B):283-291. Epub 2018 Jun 6.

M et P Pharma AG, Schynweg 7, P.O. Box 138, 6376, Emmetten, Switzerland; Nova Southeastern University, Fort Lauderdale, FL, 33314, USA.

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February 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

Role of Sex Hormones on Brain Mitochondrial Function, with Special Reference to Aging and Neurodegenerative Diseases.

Front Aging Neurosci 2017 7;9:406. Epub 2017 Dec 7.

U1195 Inserm and University Paris-Sud and University Paris-Saclay, Le Kremlin-Bicêtre, France.

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December 2017

Mutation in the AGK gene in two siblings with unusual Sengers syndrome.

Metab Brain Dis 2017 12 3;32(6):2149-2154. Epub 2017 Sep 3.

Service de Génétique Médicale, Hôpital Estaing, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France.

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December 2017

UQCRC2 mutation in a patient with mitochondrial complex III deficiency causing recurrent liver failure, lactic acidosis and hypoglycemia.

J Hum Genet 2017 Jul 9;62(7):729-731. Epub 2017 Mar 9.

APHP-CHU de Bicêtre, Biochemistry Department, 78, rue du Général Leclerc, Le Kremlin Bicêtre, France.

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July 2017

Resveratrol attenuates oxidative stress in mitochondrial Complex I deficiency: Involvement of SIRT3.

Free Radic Biol Med 2016 07 25;96:190-8. Epub 2016 Apr 25.

INSERM UMRS 1124, Université Paris Descartes, 75006 Paris, France. Electronic address:

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July 2016

Effect of Sex Differences on Brain Mitochondrial Function and Its Suppression by Ovariectomy and in Aged Mice.

Endocrinology 2015 Aug 3;156(8):2893-904. Epub 2015 Jun 3.

U1195 Inserm and University Paris-Sud (P.G., P.L., A.P., M.S., R.G.), 94276 Le Kremlin-Bicêtre Cedex, France; and Biochemistry Laboratory (P.G., S.S., P.T., A.S.), Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, University Paris-Sud, 94275 Le Kremlin-Bicêtre Cedex, France.

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August 2015

New spastic paraplegia phenotype associated to mutation of NFU1.

Orphanet J Rare Dis 2015 Feb 8;10:13. Epub 2015 Feb 8.

Paris Diderot University - Sorbonne Paris Cité; Inserm U1141, DHU PROTECT, Robert Debré Hospital, Paris, France.

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February 2015

Phenotypic diversity associated with the MT-TV gene m.1644G>A mutation, a matter of quantity.

Mitochondrion 2014 Mar 29;15:34-9. Epub 2014 Mar 29.

AP-HP, Hôpital de La Salpêtrière, Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique, Paris F-75651, France; INSERM, UMRS 1016, Institut Cochin, Paris F-75014, France; CNRS, UMR 8104, Institut Cochin, Paris F-75014, France; Université René Descartes-Paris 5, Paris F-75014, France. Electronic address:

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March 2014

Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency.

Mitochondrion 2014 Mar 22;15:59-64. Epub 2014 Jan 22.

Reference Center of Inherited Metabolic Diseases, University Paris Descartes, Hospital Necker Enfants Malades, APHP, Paris, France. Electronic address:

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March 2014

Secondary Mitochondrial Respiratory Chain Defect Can Delay Accurate PFIC2 Diagnosis.

JIMD Rep 2014 9;14:17-21. Epub 2013 Nov 9.

Biochemistry Unit, Hôpital Bicêtre, Assistance Publique - Hôpitaux de Paris, Université Paris Sud 11, 78, rue du Général Leclerc, Le Kremlin-Bicêtre, 94275 cedex, France,

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October 2014

Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases.

JIMD Rep 2013 27;11:117-23. Epub 2013 Apr 27.

Laboratoire de biochimie, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, 78 rue du Général Leclerc, Le Kremlin-Bicêtre Cedex, 94275, France.

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August 2013

Mitochondrial complex I deficiency of nuclear origin I. Structural genes.

Mol Genet Metab 2012 Feb 18;105(2):163-72. Epub 2011 Nov 18.

Laboratoire de Biochimie, APHP Hôpital de Bicêtre, 78 rue du Général Leclerc, 94275 Le Kremlin Bicêtre cedex, France.

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February 2012

Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes.

Mol Genet Metab 2012 Feb 20;105(2):173-9. Epub 2011 Oct 20.

Laboratoire de Biochimie, APHP Hôpital de Bicêtre, 78 rue du Général Leclerc, 94275 Le Kremlin Bicêtre cedex, France.

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February 2012

Increased susceptibility to liver fibrosis with age is correlated with an altered inflammatory response.

Rejuvenation Res 2011 Aug 6;14(4):353-63. Epub 2011 May 6.

Institut National de la Santé et de la Recherche Médicale U.1016, Institut Cochin, 24 rue du Faubourg Saint-Jacques, Paris, France.

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August 2011

Carboplatin: a new cause of severe type B lactic acidosis secondary to mitochondrial DNA damage.

Am J Emerg Med 2011 Sep 8;29(7):842.e5-7. Epub 2010 Oct 8.

Medical Intensive Care Department, Antoine Béclère Hospital, France EA 4046, Paris XI University, France.

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September 2011

Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction.

Gastroenterology 2009 Jul 1;137(1):101-9. Epub 2009 Apr 1.

AP-HP, Hôpital Beaujon, Pôle des maladies de l'appareil digestif, Service de Gastroentérologie et d'assistance nutritive, Clichy, France.

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July 2009

Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects.

Mol Genet Metab 2009 Apr 22;96(4):196-200. Epub 2009 Jan 22.

Laboratoire de Biochimie, APHP Hôpital de Bicêtre, 78, rue du Général Leclerc, 94275 Le Kremlin-Bicêtre Cedex, France.

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April 2009

Decylubiquinol impedes mitochondrial respiratory chain complex I activity.

Mol Cell Biochem 2008 Jul 15;314(1-2):45-50. Epub 2008 Apr 15.

Inserm, U676, Hôpital Robert Debré, Bât Ecran, Paris, France.

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July 2008

Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditions.

Epilepsia 2008 Apr 5;49(4):685-90. Epub 2008 Feb 5.

Department of Pediatrics, Severance Children's Hospital, The Institute for Handicapped Children, Yonsei University College of Medicine, Seoul, Korea.

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April 2008

Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.

Ann Neurol 2007 Dec;62(6):579-87

Institut National de la Sante et de la Recherche Médicale U781 and Service de Génétique, Hôpital Necker-Enfants Malades, Paris, France.

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December 2007

Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances.

Hum Mol Genet 2007 Jun 3;16(12):1400-11. Epub 2007 May 3.

Mitochondrial Genetics Group, Nuffield Department of Obstetrics and Gynaecology, Level 3, Women's Centre,The John Radcliffe Hospital, Oxford OX3 9DU, UK.

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June 2007

Safe and effective use of the ketogenic diet in children with epilepsy and mitochondrial respiratory chain complex defects.

Epilepsia 2007 Jan;48(1):82-8

Department of Pediatrics and Epilepsy Center, Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea.

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January 2007

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

Revisiting pitfalls, problems and tentative solutions for assaying mitochondrial respiratory chain complex III in human samples.

Curr Med Chem 2004 Jan;11(2):233-9

Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U393, Hôpital des Enfants-Malades, 149, rue de Sèvres, 75743 Paris Cedex 15, France.

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January 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