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Erythropoietic Protoporphyria and X-Linked Protoporphyria
- https://rarediseases.org/rare-diseases/erythropoietic-protoporphyria/
- Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disorder caused by a deficiency of the enzyme ferrochelatase (FECH), which results from changes (mutations) in the FECH gene. Due to abnormally low levels of this enzyme, excessive amounts of protoporphyrin accumulate in the bone marrow, blood plas… See more
Erythropoietic Protoporphyria: Symptoms, …
- https://www.verywellhealth.com/erythropoietic-protoporphyria-overview-4174220
- Diagnosis. Treatment. Erythropoietic protoporphyria (EPP) is one of several rare inherited …
Erythropoietic protoporphyria: Definition, causes, …
- https://www.medicalnewstoday.com/articles/erythropoietic-protoporphyria
- EEP is a rare genetic condition that causes pain in response to sunlight exposure. The pain and other symptoms vary in severity and duration from person to …
Erythropoietic protoporphyria - Wikipedia
- https://en.wikipedia.org/wiki/Erythropoietic_protoporphyria
Erythropoietic Protoporphyria (EPP) and X-Linked …
- https://porphyriafoundation.org/for-patients/types-of-porphyria/EPP-XLP/
- Erythropoietic Protoporphyria (EPP) is a rare inherited metabolic disorder characterized by a deficiency of the enzyme ferrochelatase (FECH). Due to abnormally low levels of this …
Erythropoietic Protoporphyria - StatPearls
- https://www.ncbi.nlm.nih.gov/books/NBK563141/
- Erythropoietic protoporphyria (EPP) is an inherited condition resulting in the accumulation of protoporphyrins in red blood cells that causes acute, …
Erythropoietic protoporphyria | DermNet
- https://dermnetnz.org/topics/erythropoietic-protoporphyria
- Erythropoietic protoporphyria (EPP) is one of the cutaneous porphyrias. EPP is due to an inherited deficiency of the enzyme ferrochelatase. Reduced activity of this enzyme …
Erythropoietic Protoporphyria, Autosomal …
- https://www.ncbi.nlm.nih.gov/books/NBK100826/
- Erythropoietic protoporphyria (EPP) is characterized by cutaneous photosensitivity (usually beginning in infancy or childhood) that results in tingling, …
EPP (erythropoietic protoporphyria) - Medical Dictionary
- https://medical-dictionary.thefreedictionary.com/EPP+(erythropoietic+protoporphyria)
- porphyria [ por-fēr´e-ah] a genetic disorder characterized by a disturbance in porphyrin metabolism with resultant increase in the formation and excretion of porphyrins ( …
EPP | definition of EPP by Medical dictionary
- https://medical-dictionary.thefreedictionary.com/EPP
- erythropoietic protoporphyria (EPP) an autosomal dominant disorder, a form of erythropoietic porphyria, characterized by increased levels of protoporphyrin in the erythrocytes, …
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