Associated Papers
Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases.
Wang Y et al.
Orphanet Journal of Rare Diseases, 2024
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W et al.
American Journal of Human Genetics, 2023
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W et al.
Biorxiv : the Preprint Server for Biology, 2023
Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.
Fu Y et al.
Frontiers in Pharmacology, 2019
Acute Intermittent Porphyria in children: A case report and review of the literature.
Balwani M et al.
Molecular Genetics and Metabolism, 2016
Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.
Ulbrichova D et al.
The Febs Journal, 2009
May 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria: comparison with the situation in Slavic population.
Hrdinka M et al.
Physiological Research, 2006
Gene-environmental interactions: Lessons from porphyria.
Sassa S
Environmental Health and Preventive Medicine, 2003
Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families.
Kauppinen R et al.
Clinical Chemistry, 2002
Review: molecular pathogenesis of hepatic acute porphyrias.
Grandchamp B et al.
Journal of Gastroenterology and Hepatology, 1996
Porphobilinogen deaminase gene structure and molecular defects.
Deybach JC et al.
Journal of Bioenergetics and Biomembranes, 1995
The three-dimensional structures of mutants of porphobilinogen deaminase: toward an understanding of the structural basis of acute intermittent porphyria.
Brownlie PD et al.
Protein Science : a Publication of the Protein Society, 1994
Identification of five novel mutations in the porphobilinogen deaminase gene.
Mgone CS et al.
Human Molecular Genetics, 1994
Select a paper to view details