ABCB6 Polymorphisms are not Overly Represented in Patients with Porphyria.
Sign Up to like & getrecommendations! Published in 2021 at "Blood advances"
DOI: 10.1182/bloodadvances.2021005484
Abstract: The Mendelian inheritance pattern of acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria is autosomal dominant, but the clinical phenotype is heterogeneous. Within the general population, penetrance is low, but among first-degree relatives of a… read more here.
Keywords: phenotype; represented patients; overly represented; abcb6 polymorphisms ... See more keywords
Genetic ancestry of patients with porphyria cutanea tarda in a country with mixed races: a cross-sectional study (Rio de Janeiro - Brazil).
Sign Up to like & getrecommendations! Published in 2018 at "Anais brasileiros de dermatologia"
DOI: 10.1590/abd1806-4841.20186666
Abstract: Porphyria cutanea tarda has a complex etiology with genetic factors not completely elucidated. The miscegenation of the Brazilian population has important implications in the predisposition to diseases. There are no studies concerning the genetic ancestry… read more here.
Keywords: ancestry patients; porphyria cutanea; patients porphyria; genetic ancestry ... See more keywords
Risk of Hepatocellular Carcinoma in Patients with Porphyria: A Systematic Review
Sign Up to like & getrecommendations! Published in 2022 at "Cancers"
DOI: 10.3390/cancers14122947
Abstract: Simple Summary Porphyria is a metabolic condition which leads to reduced heme production. While it involves multiple organs systems, porphyria affecting the liver can lead to elevations in hepatic enzymes, progressive fibrosis, cirrhosis and eventually… read more here.
Keywords: liver; patients porphyria; review; malignancy ... See more keywords