Hereditary coproporphyria: report of an Irish kindred and identification of a novel gene mutation
Year: 2008
Type: article
Study design: Case Report
Abstract: The case of acute coproporphyria in a 13 years old female, who presented with neuropsychiatric symptoms (visual hallucinations and peripheral neuropathy) and abdominal pain has previously been described. We report an Irish kindred of 8 additional patients with previously undiagnosed hereditary coproporphyria, who were defined following studies of the family of the index case.
Source: PubMed
DOI: 10.34961/10485
Authors: O'Gorman, Clodagh S., Gill, D., Darby, C., Crowley, V., Mahony, M.J.
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W47518063