| Autor: |
Braovac, Duje, Dumić Kubat, Katja, Matković, Hana, Ćaleta, Tomislav, Aničić, Mirna Natalija, Gotovac Jerčić, Kristina, Vuković, Jurica, Sindičić Dessardo, Nada, Grizelj, Ruža |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
|
