Hereditary coproporphyria: report of an Irish kindred and identification of a novel gene mutation

O'Gorman, Clodagh S.; Gill, D.; Darby, C.; Crowley, V.; Mahony, M.J.

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Hereditary coproporphyria: report of an Irish kindred and identification of a novel gene mutation

O'Gorman, Clodagh S.; Gill, D.; Darby, C.; Crowley, V.; Mahony, M.J.

Date

2008

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.

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non-peer-reviewed

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Irish Medical Organisation (IMO)

Citation

Irish Medical Journal;101(4), pp. 125

Hereditary coproporphyria: report of an Irish kindred and identification of a novel gene mutation

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Sustainable Development Goals

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