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Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations
A 78-year-old man with a history of neonatal anemia and jaundice and life-long photosensitivity was found to have harderoporphyria, as evidenced by increased porphyrins in urine, plasma, erythrocytes and feces including large amounts of harderoporphyrin in feces and erythrocytes. Two previously unde...
Sparad:
| Huvudupphovsmän: | , , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
Elsevier
2019-06-01
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| Serie: | Molecular Genetics and Metabolism Reports |
| Länkar: | http://www.sciencedirect.com/science/article/pii/S2214426918301484 |
| Taggar: |
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