Apolline Imbard

Apolline Imbard

UNVERIFIED PROFILE

Are you Apolline Imbard?   Register this Author

Register author
Apolline Imbard

Apolline Imbard

Publications by authors named "Apolline Imbard"

Are you Apolline Imbard?   Register this Author

21Publications

834Reads

36Profile Views

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41598-019-50518-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6773867PMC
October 2019

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jnnp-2017-316644DOI Listing
September 2018

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:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2018.01.009DOI Listing
April 2018

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.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/jhg20156
Publisher Site
http://dx.doi.org/10.1038/jhg.2015.6DOI Listing
April 2015

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.

View Article

Download full-text PDF

Source
http://www.bioscirep.org/content/ppbioscirep/35/4/e00222.ful
Web Search
http://bioscirep.org/cgi/doi/10.1042/BSR20150094
Publisher Site
http://dx.doi.org/10.1042/BSR20150094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613678PMC
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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-015-0237-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4333890PMC
February 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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2014.05.015DOI Listing
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;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1096/fj.13-246579DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021445PMC
June 2014

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22392DOI Listing
November 2013

Global protein and histone arginine methylation are affected in a tissue-specific manner in a rat model of diet-induced hyperhomocysteinemia.

Biochim Biophys Acta 2013 Oct 22;1832(10):1708-14. Epub 2013 May 22.

Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbadis.2013.05.013DOI Listing
October 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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.4142DOI Listing
September 2013

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijerph10094352DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3799525PMC
September 2013

Plasma choline and betaine correlate with serum folate, plasma S-adenosyl-methionine and S-adenosyl-homocysteine in healthy volunteers.

Clin Chem Lab Med 2013 Mar;51(3):683-92

Biochemistry-Hormonology Laboratory, Robert Debré Hospital, 48 Boulevard Serurier, 75019 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1515/cclm-2012-0302DOI Listing
March 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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jchromb.2011.10.009DOI Listing
December 2011