Pregled bibliografske jedinice broj: 1196186
Novel presentation of neonatal-onset hereditary coproporphyria
Novel presentation of neonatal-onset hereditary coproporphyria // Journal of pediatric gastroenterology and nutrition, 72 (2021), Suppl 1
Beč, Austrija, 2021. str. 895-895 (poster, međunarodna recenzija, sažetak, znanstveni)
CROSBI ID: 1196186 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Novel presentation of neonatal-onset hereditary
coproporphyria
Autori
Braovac, Duje ; Dumić Kubat, Katja ; Matković, Hana ; Ćaleta, Tomislav ; Aničić, Mirna Natalija ; Gotovac Jerčić, Kristina ; Vuković, Jurica ; Sindičić Dessardo, Nada ; Grizelj, Ruža
Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni
Izvornik
Journal of pediatric gastroenterology and nutrition, 72 (2021), Suppl 1
/ - , 2021, 895-895
Skup
6th World Congress of Paediatric Gastroenterology, Hepatology and Nutrition (PGHAN 2021)
Mjesto i datum
Beč, Austrija, 02.06.2021. - 05.06.2021
Vrsta sudjelovanja
Poster
Vrsta recenzije
Međunarodna recenzija
Ključne riječi
neonate ; coproporphyria
Sažetak
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.
Izvorni jezik
Engleski
Znanstvena područja
Kliničke medicinske znanosti
POVEZANOST RADA
Ustanove:
Medicinski fakultet, Zagreb,
Klinički bolnički centar Zagreb
Profili:
Kristina Gotovac Jerčić
(autor)
Tomislav Ćaleta
(autor)
Nada Sindičić Dessardo
(autor)
Jurica Vuković
(autor)
Katja Dumić Kubat
(autor)
Ruža Grizelj
(autor)
Citiraj ovu publikaciju:
Časopis indeksira:
- Current Contents Connect (CCC)
- Web of Science Core Collection (WoSCC)
- Science Citation Index Expanded (SCI-EXP)
- SCI-EXP, SSCI i/ili A&HCI
- Scopus
- MEDLINE
