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
A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders.
Ortigoza-Escobar JD
Frontiers in Neurology, 2020
33281718 (PubMed )
Supplement: Table_6.DOCX
Hereditary Coproporphyria Associated with the Q306X Mutation in the Coproporphyrin Oxidase Gene Presenting with Acute Ataxia.
Jiménez-Jiménez FJ et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2013
Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update.
Rosipal R et al.
Human Mutation, 1999
Select a paper to view details