Novel presentation of neonatal-onset hereditary coproporphyria (CROSBI ID 718317)
Prilog sa skupa u časopisu | sažetak izlaganja sa skupa | međunarodna recenzija
Podaci o odgovornosti
Braovac, Duje ; Dumić Kubat, Katja ; Matković, Hana ; Ćaleta, Tomislav ; Aničić, Mirna Natalija ; Gotovac Jerčić, Kristina ; Vuković, Jurica ; Sindičić Dessardo, Nada ; Grizelj, Ruža
engleski
Novel presentation of neonatal-onset hereditary coproporphyria
Hereditary coproporphyria (HCP) is an autosomal dominant disorder of haem synthesis caused by mutation in CPOX gene. Majority of heterozygotes remain asymptomatic throughout life and disease onset before puberty is exceedingly rare. Only two patients with neonatal-onset HCP heterozygous for a CPOX pathogenic variant have been described in literature so far.
neonate ; coproporphyria
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
Podaci o prilogu
895-895.
2021.
nije evidentirano
objavljeno
Podaci o matičnoj publikaciji
Journal of pediatric gastroenterology and nutrition
0277-2116
1536-4801
Podaci o skupu
6th World Congress of Paediatric Gastroenterology, Hepatology and Nutrition (PGHAN 2021)
poster
02.06.2021-05.06.2021
Beč, Austrija