Publications by authors named "Benedicte Heron"

38Publications

Early detection of median nerve compression by Electroneurography can improve outcome in children with Mucopolysaccharidoses.

Orphanet J Rare Dis 2018 11 21;13(1):209. Epub 2018 Nov 21.

Department of Pediatric Neurology, CHU Trousseau, APHP, Paris, France.

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http://dx.doi.org/10.1186/s13023-018-0937-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6249914PMC
November 2018

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.

Orphanet J Rare Dis 2018 10 1;13(1):175. Epub 2018 Oct 1.

Reference Centre for Lysosomal Diseases (CRML), Department of Pediatric Neurology, and Sorbonne Université, GRC n°19, Pathologies Congénitales du Cervelet-LeucoDystrophies, AP-HP, Hôpital Armand Trousseau, F-75012, Paris, France.

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0
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http://dx.doi.org/10.1186/s13023-018-0913-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6167825PMC
October 2018

Urinary metabolic phenotyping of mucopolysaccharidosis type I combining untargeted and targeted strategies with data modeling.

Clin Chim Acta 2017 Dec 2;475:7-14. Epub 2017 Oct 2.

Department of Metabolic Biochemistry, Rouen University Hospital, Rouen 76000, France; Normandie Univ, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, France. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2017.09.024DOI Listing
December 2017

Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency.

J Neurol Neurosurg Psychiatry 2016 May 3;87(5):550-3. Epub 2015 Nov 3.

Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France Department of Neurology, AP-HP, Pitié-Salpêtrière University Hospital, Paris, France.

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http://dx.doi.org/10.1136/jnnp-2015-311475DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853553PMC
May 2016

Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study.

Orphanet J Rare Dis 2015 Apr 12;10:43. Epub 2015 Apr 12.

Centre de Référence Maladies Métaboliques de l'enfant et de l'adulte, Hôpital Universitaire Necker-Enfants Malades et Institut IMAGINE, Paris, France.

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http://www.ojrd.com/content/10/1/43
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http://dx.doi.org/10.1186/s13023-015-0259-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4407793PMC
April 2015

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.

Orphanet J Rare Dis 2014 Dec 11;9:207. Epub 2014 Dec 11.

AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, Unité Fonctionnelle de Neurogénétique moléculaire et cellulaire et Centre de Référence des Déficiences Intellectuelles de Causes Rares, 47-83 boulevard de l'hôpital, Paris, 75013, France.

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http://dx.doi.org/10.1186/s13023-014-0207-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266234PMC
December 2014

Analysis of the upper airway by the acoustic reflection method in children with mucopolysaccharidosis.

Pediatr Pulmonol 2011 Jun 28;46(6):587-94. Epub 2011 Jan 28.

Pierre et Marie Curie University Paris 06, France.

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http://dx.doi.org/10.1002/ppul.21409DOI Listing
June 2011

24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: follow up using brain spectroscopy.

Mol Genet Metab 2009 Feb 13;96(2):55-8. Epub 2008 Nov 13.

Department of Neuroradiology and Center for NeuroImaging Research-CENIR , Pitié-Salpêtrière Hospital, Assistance Publique Hôpitaux de Paris, France.

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http://dx.doi.org/10.1016/j.ymgme.2008.10.002DOI Listing
February 2009

The spectrum of herpes simplex encephalitis in children.

Eur J Paediatr Neurol 2008 Mar 17;12(2):72-81. Epub 2007 Sep 17.

Department of Paediatric Neurology, ULB-Hôpital Erasme, Brussels, Belgium.

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http://linkinghub.elsevier.com/retrieve/pii/S109037980700114
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http://dx.doi.org/10.1016/j.ejpn.2007.07.007DOI Listing
March 2008

Herpes simplex encephalitis: diagnostic problems and late relapse.

Dev Med Child Neurol 2006 Jan;48(1):60-3

Department of Paediatric Neurology, Hôpital Cochin-Saint Vincent de Paul, Paris, France.

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http://dx.doi.org/10.1017/S0012162206000120DOI Listing
January 2006

AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC.

Am J Hum Genet 2004 Jun 26;74(6):1276-81. Epub 2004 Apr 26.

Laboratory of Physiological Chemistry, Christian de Duve Institute of Cellular Pathology and Cliniques Universitaires Saint-Luc, Universite Catholique de Louvain, Brussels, Belgium.

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http://dx.doi.org/10.1086/421475DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1182092PMC
June 2004

Limits of early diagnosis of herpes simplex encephalitis in children: a retrospective study of 38 cases.

Clin Infect Dis 2003 May 1;36(10):1335-9. Epub 2003 May 1.

Service de Neuropédiatrie, Hôpital Saint Vincent de Paul, and Faculté de Médecine Cochin, Paris, France.

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https://academic.oup.com/cid/article-lookup/doi/10.1086/3748
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http://dx.doi.org/10.1086/374839DOI Listing
May 2003