Dicembre 2000 - Volume XIX - numero 10
Pagina verde
Clinica Pediatrica, IRCCS “Burlo Garofolo”, Università di Trieste
A case of early onset Nieman-Pick type C disease, with neonatal onset of mixed hyperbilirubinemia and increased aminotransferases, and later development of hypotonia and psychomotor delay, is reported. The congenital, functional and metabolic causes of neonatal jaundice are described and the diagnostic approach to the reported case is discussed.
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