Case report: Crigler-Najjar syndrome type 1 in Croatia—more than a one in a million: a case series

Crigler-Najjar syndrome (CNS) is an exceedingly rare autosomal recessive disease with an estimated incidence of 1 in a million live births. CNS type 1 (CNS1) is the most severe form, characterized by severe unconjugated hyperbilirubinemia since birth due to the absence of hepatic uridine 5'-diphosph...

Szczegółowa specyfikacja

Opis bibliograficzny

Główni autorzy:	Matea Kovačić Perica, Ivana Todorić, Nedo Marčinković, Petra Džepina, Mirna Natalija Aničić, Anna Mrzljak, Jurica Vuković
Format:	Artigo
Język:	Inglês
Wydane:	Frontiers Media S.A. 2023-10-01
Seria:	Frontiers in Pediatrics
Hasła przedmiotowe:	crigler-Najjar syndrome bilirubin UDP-glucuronosyltransferase UGT1A1 hyperbilirubinemia Croatia case series
Dostęp online:	https://www.frontiersin.org/articles/10.3389/fped.2023.1276349/full
Etykiety:	Dodaj etykietę Nie ma etykietki, Dołącz pierwszą etykiete!