Sylvie Joriot-Chekaf

  • Citations Per Year
Learn More
To the Editor : Molybdenum cofactor deficiency (MoCoD, MIM 252150) is an autosomal recessive and rare metabolic disease (1). Absence of the cofactor inactivates sulphite oxidase activity thereby resulting via elevated sulphite levels in severe and progressive neurological damage. Affected patients are found worldwide and usually come to clinical attention(More)
To characterize the clinical profile, comorbidity and aggravating factors, and outcomes, a consecutive series of 34 French children and adolescents with chronic daily headache was studied. Of 206 referred over an inclusive interval of 2 years for the evaluation of headaches, 34 merited a diagnosis of chronic daily headache, which was defined as persistent(More)
We here report a boy presenting with developmental delay, growth retardation, facial dysmorphisms, vermis hypoplasia, micropolygyria and corpus callosum agenesis. Conventional and high resolution cytogenetic analyses were normal but high resolution oligonucleotide array-CGH, performed at the age of 4 years, allowed the characterisation of a de novo 6.9 Mb(More)
OBJECTIVES Inhaled NO (INO), at 5-40 parts per million (ppm) in the air, is indicated for treating neonatal hypoxic respiratory failure. Whether these doses of INO are protective or toxic towards brain was here evaluated in laboratory animals. METHODS In rat neonates (postnatal day 7), a brain injury based on permanent right carotid artery occlusion plus(More)
  • 1