Publications by authors named "Apolline Imbard"

25Publications

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

[An acidosis not so basic].

Ann Biol Clin (Paris) 2020 08;78(4):417-424

Laboratoire de biochimie-hormonologie, Centre hospitalo-universitaire Robert-Debré, AP-HP, Paris, France, LIPSYS, Faculté de pharmacie, Université Paris-Saclay, Châtenay-Malabry, France.

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August 2020

Nitrous oxide and vitamin B12 in sickle cell disease: Not a laughing situation.

Mol Genet Metab Rep 2020 Jun 17;23:100579. Epub 2020 Mar 17.

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

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June 2020

Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening.

Sci Rep 2019 Oct 1;9(1):14098. Epub 2019 Oct 1.

Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, 75019, France.

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October 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

Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy.

J Neurol Neurosurg Psychiatry 2018 09 12;89(9):1009-1010. Epub 2017 Oct 12.

Department of Neurology, Fondation Ophtalmologique Adolphe de Rothschild, Paris, France.

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September 2018

High homocysteine induces betaine depletion.

Biosci Rep 2015 Apr 28;35(4). Epub 2015 Apr 28.

‡Laboratory for Clinical Biochemistry and Metabolism, Department of General Pediatrics, Center for Pediatrics and Adolescent Medicine University Hospital, Freiburg D-79106, Germany.

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April 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

NF1 single and multi-exons copy number variations in neurofibromatosis type 1.

J Hum Genet 2015 Apr 29;60(4):221-4. Epub 2015 Jan 29.

1] EA7331, Université Paris Descartes, Sorbonne Paris Cité, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France [2] Service de Biochimie et de Génétique Moléculaire, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Paris, France.

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April 2015

Body composition in patients with classical homocystinuria: body mass relates to homocysteine and choline metabolism.

Gene 2014 Aug 6;546(2):443-7. Epub 2014 May 6.

Post-Graduation Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; BRAIN Laboratory (Basic Research and Advanced Investigations in Neurosciences), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.

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August 2014

Protein arginine hypomethylation in a mouse model of cystathionine β-synthase deficiency.

FASEB J 2014 Jun 14;28(6):2686-95. Epub 2014 Feb 14.

Institute for Medicines and Pharmaceutical Sciences (iMed.UL) and Department of Biochemistry and Human Biology, Faculty of Pharmacy, University of Lisbon, Lisbon, Portugal;

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June 2014

Neural tube defects, folic acid and methylation.

Int J Environ Res Public Health 2013 Sep 17;10(9):4352-89. Epub 2013 Sep 17.

Biochemistry-Hormonology Laboratory, Robert Debré Hospital, APHP, 48 bd Serrurier, Paris 75019, France.

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September 2013

NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.

Hum Mutat 2013 Nov 26;34(11):1510-8. Epub 2013 Aug 26.

UMR745 INSERM, PRES Sorbonne Paris Cité, Université Paris Descartes, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France; IRD, UMR216, Mère et enfant face aux infections tropicales, Paris, France; PRES Sorbonne Paris Cité, Université Paris Descartes, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France.

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November 2013

Methylation metabolites in amniotic fluid depend on gestational age.

Prenat Diagn 2013 Sep 31;33(9):848-55. Epub 2013 May 31.

Biochemistry Hormonology Laboratory, AP-HP Hôpital Robert Debré, Paris, France.

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September 2013

Measurement of free and total sialic acid by isotopic dilution liquid chromatography tandem mass spectrometry method.

J Chromatogr B Analyt Technol Biomed Life Sci 2011 Dec 13;879(31):3694-9. Epub 2011 Oct 13.

Laboratoire de Biochimie Hormonologie, Hôpital Robert Debré, Paris, France.

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December 2011