Publications by authors named "Caroline Espil-Taris"

13Publications

[Which follow-up for innovative treatments?]

Med Sci (Paris) 2019 Mar 3;35 Hors série n° 1:54-56. Epub 2019 Apr 3.

Directrice du développement Généthon, Évry, France.

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March 2019

Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.

Mol Genet Metab 2018 04 12;123(4):441-448. Epub 2018 Feb 12.

Department of Biochemistry and Molecular Biology, Laboratory of Endocrinology, Metabolism-Nutrition, Oncology, Biology Pathology Center, CHRU Lille, 59037 Lille, France; Univ. Lille, RADEME - Maladies RAres du Développement et du Métabolisme: du phénotype au génotype et à la Fonction, Lille, EA 7364, France; Inserm, Lille, France. Electronic address:

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April 2018

A 10-year-old boy with dark urine and acute kidney injury.

Pediatr Nephrol 2011 Aug 27;26(8):1229-33. Epub 2011 Jan 27.

Service de Pédiatrie, Hôpital Pellegrin-Enfants, Centre Hospitalier Universitaire, place Amélie Raba Léon, 33076, Bordeaux cedex, France.

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August 2011

Benign nocturnal alternating hemiplegia of childhood: two cases with positive evolution.

Brain Dev 2011 Jun 2;33(6):525-9. Epub 2010 Sep 2.

Department of Child Neurology, University Hospital of Bordeaux, 33076 Bordeaux Cedex, France.

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June 2011

Severe neonatal myasthenia due to maternal anti-MuSK antibodies.

Neuromuscul Disord 2008 Jun 22;18(6):443-6. Epub 2008 Apr 22.

Centre de Référence des maladies rares neuromusculaires Paris-Est, Institut de Myologie, Service de Neurologie Mazarin, Groupe Hospitalier Pitié-Salpêtrière, APHP, 47-83 Boulevard de l'hôpital, 75651 Paris Cedex 13, France.

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June 2008

A patient with hydranencephaly and PEHO-like dysmorphic features.

Ann Genet 2003 Jan-Mar;46(1):25-8

Service de Génétique Médicale, CHU Pellegrin-Enfants, Place Amélie Raba-Léon, 33076 cedex, Bordeaux, France.

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February 2004