Publications by authors named "Elisa Lorenzetto"
Article Synopsis
- The study aims to enhance early diagnosis and management of Prader-Willi syndrome (PWS) by detailing its clinical presentations and molecular diagnostics.
- Thirty-four PWS cases were analyzed for demographic, clinical data, and genetic confirmation, revealing common symptoms like obesity, short stature, and behavioral issues.
- Results showed significant occurrence of dysmorphic features, genetic abnormalities, and various health complications, emphasizing the need for clinical vigilance and advanced genetic testing for accurate diagnosis.
ATP7A is a copper-transporting P-type adenosine triphosphatase whose loss of function leads to the Menkes disease, an X-linked copper metabolism multi-organ disorder (1 in 100.000 births). Here we document our experience with the ATP7A linked diseases in Italy.
View Article and Find Full Text PDFBackground: Lesch-Nyhan (LND) disease is an inborn error of purine metabolism which results from deficiency of the activity of hypoxanthine-guanine phosphoribosyltransferase (HPRT). In the classical form of the disease the activity of the enzyme is completely deficient and the patient has cognitive impairment, spasticity, dystonia and self-injurious behaviour, as well as elevated concentrations of uric acid in blood and urine that leads to consequences such as nephropathy, urinary tract calculi and tophaceous gout. There are disease variants without self-injurious behaviour.
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