Elisabetta Salvatici

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The type I interferon system is integral to human antiviral immunity. However, inappropriate stimulation or defective negative regulation of this system can lead to inflammatory disease. We sought to determine the molecular basis of genetically uncharacterized cases of the type I interferonopathy Aicardi-Goutières syndrome and of other undefined(More)
Despite the appearance of new treatment, dietary approach remains the mainstay of PKU therapy. The nutritional management has become complex to optimize PKU patients' growth, development and diet compliance. This paper review critically new advances and challenges that have recently focused attention on potential relevant of LCPUFA supplementation, progress(More)
There is some evidence that early colonization of the intestine affects the composition of the intestinal microbiota after weaning. In the present study, the effect of prebiotics administered from the first day of life on fecal counts of bifidobacteria and lactobacilli were studied during and after the administration of the prebiotics. In this double-blind,(More)
Phenylketonuria (PKU) is caused by the deficiency of the phenylalanine hydroxylase enzyme, which converts pheny-lalanine (Phe) to tyrosine. If left untreated from birth, this deficiency results in high levels of Phe in the blood, neuro-toxic to the brain [1].The restriction of dietary Phe represents the mainstain of PKU management. PKU diet is mainly made(More)
INTRODUCTION Fabry disease is an X-linked lysosomal storage disorder resulting in a multiple-system disorder with a wide spectrum of physical signs and symptoms, predominantly affecting the central and peripheral nervous systems, skin, heart, kidneys, and eyes. CASE PRESENTATION We describe the case of a 26-year-old European Caucasian man who had Fabry(More)
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