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GAZZETTA MEDICA ITALIANA ARCHIVIO PER LE SCIENZE MEDICHE
A Journal on Internal Medicine and Pharmacology
Indexed/Abstracted in: BIOSIS Previews, EMBASE, Scopus, Emerging Sources Citation Index
Gazzetta Medica Italiana Archivio per le Scienze Mediche 2008 June;167(3):109-16
Rare diseases in the IInd millennium
Sias A., Mudu C.
Biologia, Cagliari, Italia
The medical problem of rare diseases is addressed with particular reference to two pathologies of great importance, Narcolepsy and Kennedy’s Syndrome, the genetic characteristics and diagnostic and therapeutic procedures of which are discussed. The results are also reported of a local investigation on the incidence of the two diseases. The purpose of this paper is to provide further information regarding a question that is still today not sufficiently considered.