Marie-Françoise Vincent

Learn More
The brain-specific compound NAA (N-acetylaspartate) occurs almost exclusively in neurons, where its concentration reaches approx. 20 mM. Its abundance is determined in patients by MRS (magnetic resonance spectroscopy) to assess neuronal density and health. The molecular identity of the NAT (N-acetyltransferase) that catalyses NAA synthesis has remained(More)
We report on the striking variable expression of adenylosuccinate lyase (ADSL) deficiency in three patients belonging to a family which originates from Portugal. ADSL deficiency is a rare autosomal recessive disorder of the de novo purine synthesis which results in accumulation of succinylpurines in body fluids. As a result, patients may have variable(More)
OBJECTIVE To assess the prevalence of Fabry disease in young patients with cryptogenic stroke. PATIENTS AND METHODS We retrospectively assessed the prevalence of Fabry disease in patients aged 16-60 years that were admitted to ZNA Middelheim Hospital from January 1, 2000 to December 31, 2004 for cryptogenic stroke. We screened for Fabry disease by(More)
In a female infant with dysmorphic features, severe neurological defects, and congenital blindness, a positive urinary Bratton-Marshall test led to identification of a massive excretion of 5-amino-4-imidazolecarboxamide (AICA)-riboside, the dephosphorylated counterpart of AICAR (also termed "ZMP"), an intermediate of de novo purine biosynthesis. ZMP and its(More)
Results of a study of trigeminal nerve impairment resulting from trichloroethylene intoxication by the somatosensory-evoked potential method reveal three kinds of abnormalities: increased stimulation voltage, excessive latency delay with morphological abnormalities, and excessive graph amplitude. These abnormalities confirm clinical disturbance (hypesthesia(More)
PURPOSE To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort. METHODS Cumulative percentiles of amino acids and acylcarnitines in dried blood spots of approximately 25–30 million normal newborns and 10,742 deidentified true positive cases are compared to assign clinical(More)
PURPOSE To improve quality of newborn screening by tandem mass spectrometry with a novel approach made possible by the collaboration of 154 laboratories in 49 countries. METHODS A database of 767,464 results from 12,721 cases affected with 60 conditions was used to build multivariate pattern recognition software that generates tools integrating multiple(More)
A limited number of enzymes are known that play a role analogous to DNA proofreading by eliminating non-classical metabolites formed by side activities of enzymes of intermediary metabolism. Because few such "metabolite proofreading enzymes" are known, our purpose was to search for an enzyme able to degrade ethylmalonyl-CoA, a potentially toxic metabolite(More)
The mutagenecity of trichloroethylene and its metabolites (trichloroethanol and chloral hydrate) have been tested by using the method of sister chromatide exchanges (SCE). We have found the increasing SCE in workers chronically exposed to trichloroethylene. The increasing of SCE was also observed when the human lymphocytes were exposed to trichloroethanol(More)
INTRODUCTION Although the ingestion of a dose of colchicine lower than 0.5 mg/kg is usually complicated by a mortality rate less than 5%, severe complications may be associated with drug-drug interactions in case of overdose combining other drugs.  CASE REPORT A 33-year-old previously healthy woman was admitted after a drug overdose combining colchicine,(More)