Gabriella Di Rosa

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3-Methylglutaconic aciduria is the biochemical marker of several inherited metabolic diseases. Four types of 3-methylglutaconic aciduria can be distinguished. In the type I form, accumulation of 3-methylglutaconate is due to deficient activity of 3-methylglutaconyl-CoA hydratase, an enzyme of the leucine degradation pathway. In the other forms,(More)
In mammals, increased GABA in the central nervous system has been associated with abnormalities of visual evoked potentials (VEPs), predominantly manifested as increased latency of the major positive component P100. Accordingly, we hypothesized that patients with a defect in GABA metabolism, succinate semialdehyde dehydrogenase (SSADH) deficiency (in whom(More)
PURPOSE Mutations in PCDH19, encoding protocadherin 19 on chromosome X, cause familial epilepsy and mental retardation limited to females or Dravet-like syndrome. We wished to explore the causative role of PCDH19 gene (Xq22) in female patients with epilepsy, from Southern Italy. METHODS Direct sequencing of PCDH19 gene was conducted in 31 unrelated female(More)
In the last years second-generation antipsychotics are increasingly prescribed in the pediatric population for the treatment of several psychiatric disorders. Among the long term adverse effects, extrapyramidal symptoms (EPS) are less reported compared to first-generation antipsychotics. Tardive dyskinesia (TD) is a iatrogenic rare syndrome characterized by(More)
Clinical and electroencephalographic phenotypes of the epilepsy in patients with inborn errors of metabolism are increasingly reported in the literature. The attempt to define several, disease-specific syndromes is a crucial point to allow early diagnosis and, when it is available, to perform a mirate treatment of the underlying disorder. Either dietary(More)
Activation of the calpain system might contribute to the impairment of synaptic transmission in Alzheimer’s disease (AD) (Liu et al., 1999; Rapoport, 1999; Selkoe, 1994). Calpains regulate the function of many proteins by limited proteolysis and initiate the complete degradation of other proteins. In particular, they modulate processes that govern the(More)
Aim of this study is to show the potential of probabilistic tractographic techniques, based on the Constrained Spherical Deconvolution (CSD) algorithms, in recognizing white matter fiber bundle anomalies in patients with complex cerebral malformations, such as cerebellar agenesis. The morphological and tractographic study of a 17-year-old male patient(More)
One-hundred-eight stool samples, collected in a fishing village of Senegal from 72 apparently healthy subjects and from 36 patients with gastrointestinal disorders, were examined for the presence of Y. enterocolitica. After 1, 2, 3 weeks of cold enrichment with PBS 1/15M, pH 7.6, plating was performed on MacConkey Agar after use of the alkali method. No(More)
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