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Molecular Genetics and Metabolism, ISSN 1096-7192, 2019
Erythropoietic Protoporphyria (EPP) and X-linked Protoporphyria (XLP) are rare, genetic photodermatoses resulting from defects in enzymes of the... 
Porphyria | Genetics | Photodermatosis | Metabolic | Heme-biosynthesis
Journal Article
Journal Article
Hematology / the Education Program of the American Society of Hematology. American Society of Hematology. Education Program, 2012, Volume 2012, pp. 19 - 27
Journal Article
Blood, ISSN 0006-4971, 11/2012, Volume 120, Issue 23, pp. 4496 - 4504
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 09/2015, Volume 373, Issue 11, pp. 1010 - 1020
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2019
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare photodermatoses, generally presenting in childhood with severe and painful... 
Focus groups | Psychosocial experiences | EPP | Erythropoietic protoporphyria | Quality of life
Journal Article
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 07/2015, Volume 373, Issue 1, pp. 48 - 59
Journal Article
The Journal of Pediatrics, ISSN 0022-3476, 11/2018, Volume 202, pp. 320 - 323.e2
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2018, Volume 123, Issue 2, pp. S152 - S152
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 02/2019, Volume 380, Issue 6, pp. 549 - 558
Journal Article
Journal of inherited metabolic disease, ISSN 0141-8955, 03/2018, pp. 1 - 9
Acute intermittent porphyria (AIP), an autosomal dominant disorder due to the half-normal activity of hydroxymethylbilane synthase (HMBS), is characterized by... 
Porphyria | Transcription | Insertion | Gene deletion | Hereditary diseases | Hydroxymethylbilane synthase | Missense mutation | Genetic counseling | Clonal deletion | Protein folding | Heme | Mutation | Gene mapping | Dimerization | Crystal structure
Journal Article