Case Reports
doi: 10.1136/bmj.3.5984.621.
Erythropoietic uroporphyria of Gunther first presenting at 58 years with positive family studies
- PMID: 1164638
- PMCID: PMC1674443
- DOI: 10.1136/bmj.3.5984.621
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Case Reports
Erythropoietic uroporphyria of Gunther first presenting at 58 years with positive family studies
Br Med J.
.
Abstract
Erythropoietic uroporphyria of Gunther was seen in a 58-year-old man who presented with photosensitivity, haemolytic anaemia, and classical laboratory findings. Family studies showed five asymptomatic relatives with erythrocyte uroporphyrin concentrations in the probable latent heterozygote range.
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