Publications by authors named "Florence Habarou"

23Publications

Detection of monoclonal B-lymphocytosis: interest of cellular population data and CytoDiff™ analysis.

Clin Chem Lab Med 2020 02;58(3):e83-e86

Service de Biologie Clinique, Hôpital Foch, Suresnes, France.

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http://dx.doi.org/10.1515/cclm-2019-0914DOI Listing
February 2020

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.

Am J Hum Genet 2018 02;102(2):266-277

UMR 1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France; Laboratory of Excellence GR-Ex, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183000
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http://dx.doi.org/10.1016/j.ajhg.2018.01.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985451PMC
February 2018

Autism spectrum disorders in propionic acidemia patients.

J Inherit Metab Dis 2018 07 30;41(4):623-629. Epub 2017 Aug 30.

Service de Pédopsychiatrie, Hôpital Necker-Enfants Malades, Université Paris Descartes, APHP, 149 rue de Sèvres, 75015, Paris, France.

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http://dx.doi.org/10.1007/s10545-017-0070-2DOI Listing
July 2018

Two-dimensional electrophoresis highlights haptoglobin beta chain as an additional biomarker of congenital disorders of glycosylation.

Clin Chim Acta 2017 Jul 27;470:70-74. Epub 2017 Apr 27.

AP-HP, Biochimie Métabolique et Cellulaire, Hôpital Bichat, Paris, France; Université Paris Descartes, France.

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http://dx.doi.org/10.1016/j.cca.2017.04.022DOI Listing
July 2017

Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles.

JIMD Rep 2016 27;27:39-45. Epub 2015 Sep 27.

Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, University of Paris Descartes, Institut Imagine, Paris, France.

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http://link.springer.com/content/pdf/10.1007%2F8904_2015_481
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http://link.springer.com/10.1007/8904_2015_481
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http://dx.doi.org/10.1007/8904_2015_481DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864717PMC
May 2016

Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.

J Inherit Metab Dis 2016 Jan 25;39(1):47-58. Epub 2015 Jun 25.

INSERM UMR-1124, Université Paris Descartes, Centre Universitaire des Saints Pères, 45 rue des Saints Pères, 75006, Paris, France.

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http://dx.doi.org/10.1007/s10545-015-9871-3DOI Listing
January 2016

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

Brain 2015 Aug 29;138(Pt 8):2191-205. Epub 2015 May 29.

1 INSERM, U 1127, F-75013, Paris, France 2 CNRS, UMR 7225, F-75013, Paris, France 3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France 4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France 6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France 9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France

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http://dx.doi.org/10.1093/brain/awv143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4553756PMC
August 2015

Acute rhabdomyolysis and inflammation.

J Inherit Metab Dis 2015 Jul 17;38(4):621-8. Epub 2015 Mar 17.

Institut Imagine, Institut National de la Santé et de la Recherche Médicale, Unité 1163, 75015, Paris, France.

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http://dx.doi.org/10.1007/s10545-015-9827-7DOI Listing
July 2015

A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.

PLoS Genet 2014 Nov 13;10(11):e1004711. Epub 2014 Nov 13.

INSERM U781, Institut Imagine des Maladies Génétiques, Université Paris Descartes et Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker, AP-HP, Paris, France.

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http://dx.doi.org/10.1371/journal.pgen.1004711DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4230727PMC
November 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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http://dx.doi.org/10.1016/j.mito.2014.01.003DOI Listing
March 2014

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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http://dx.doi.org/10.1186/1750-1172-8-148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4016503PMC
September 2013