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Pregled bibliografske jedinice broj: 1196186

Novel presentation of neonatal-onset hereditary coproporphyria


Braovac, Duje; Dumić Kubat, Katja; Matković, Hana; Ćaleta, Tomislav; Aničić, Mirna Natalija; Gotovac Jerčić, Kristina; Vuković, Jurica; Sindičić Dessardo, Nada; Grizelj, Ruža
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, stručni)


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, stručni

Izvornik
Journal of pediatric gastroenterology and nutrition, 72 (2021), Suppl 1 / - , 2021, 895-895

Skup
6th World congress of paediatric gastroenterology, hepatology and nutrition

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

Poveznice na cjeloviti tekst rada:

www.researchgate.net

Citiraj ovu publikaciju:

Braovac, Duje; Dumić Kubat, Katja; Matković, Hana; Ćaleta, Tomislav; Aničić, Mirna Natalija; Gotovac Jerčić, Kristina; Vuković, Jurica; Sindičić Dessardo, Nada; Grizelj, Ruža
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, stručni)
Braovac, D., Dumić Kubat, K., Matković, H., Ćaleta, T., Aničić, M., Gotovac Jerčić, K., Vuković, J., Sindičić Dessardo, N. & Grizelj, R. (2021) Novel presentation of neonatal-onset hereditary coproporphyria. U: Journal of pediatric gastroenterology and nutrition, 72 (2021), Suppl 1.
@article{article, author = {Braovac, Duje and Dumi\'{c} Kubat, Katja and Matkovi\'{c}, Hana and \'{C}aleta, Tomislav and Ani\v{c}i\'{c}, Mirna Natalija and Gotovac Jer\v{c}i\'{c}, Kristina and Vukovi\'{c}, Jurica and Sindi\v{c}i\'{c} Dessardo, Nada and Grizelj, Ru\v{z}a}, year = {2021}, pages = {895-895}, keywords = {neonate, coproporphyria}, title = {Novel presentation of neonatal-onset hereditary coproporphyria}, keyword = {neonate, coproporphyria}, publisherplace = {Be\v{c}, Austrija} }
@article{article, author = {Braovac, Duje and Dumi\'{c} Kubat, Katja and Matkovi\'{c}, Hana and \'{C}aleta, Tomislav and Ani\v{c}i\'{c}, Mirna Natalija and Gotovac Jer\v{c}i\'{c}, Kristina and Vukovi\'{c}, Jurica and Sindi\v{c}i\'{c} Dessardo, Nada and Grizelj, Ru\v{z}a}, year = {2021}, pages = {895-895}, keywords = {neonate, coproporphyria}, title = {Novel presentation of neonatal-onset hereditary coproporphyria}, keyword = {neonate, coproporphyria}, publisherplace = {Be\v{c}, Austrija} }

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





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