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
Acute intermittent porphyria: prevalence of pathogenic HMBS variants in China, and epidemiological survey in Hebei Province, China.
Ma L et al.
Annals of Translational Medicine, 2022
Enrichment of pathogenic variants in genes associated with inborn errors of metabolism in psychiatric populations.
Sriretnakumar V et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2019
Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.
Fu Y et al.
Frontiers in Pharmacology, 2019
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
Influence of age and gender on the clinical expression of acute intermittent porphyria based on molecular study of porphobilinogen deaminase gene among Swiss patients.
Schuurmans MM et al.
Molecular Medicine (cambridge, Mass.), 2001
Select a paper to view details