Erythropoietic protoporphyria linked to intricate double heterozygous mutations in theFECH gene: a case report and literature review
Abstract Background Erythropoietic protoporphyria is an inherited disorder characterized by mutations in the FECH gene, which encodes the enzyme ferrous chelatase. These mutations disrupt normal heme synthesis, leading to the accumulation of protoporphyrin in erythrocytes and other tissues. Clinical...
I tiakina i:
| Ngā kaituhi matua: | , , , , |
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| Hōputu: | Artigo |
| Reo: | Inglês |
| I whakaputaina: |
BMC
2025-07-01
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| Rangatū: | Orphanet Journal of Rare Diseases |
| Ngā marau: | |
| Urunga tuihono: | https://doi.org/10.1186/s13023-025-03860-8 |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
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