Delayed diagnosis and diminished quality of life in erythropoietic protoporphyria: results of a cross-sectional study in Sweden
Author:
Publisher
Wiley
Subject
Internal Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2796.2010.02283.x/fullpdf
Reference29 articles.
1. Porphyrias;Puy;Lancet,2010
2. Erythropoietic protoporphyria;Lecha;Orphanet J Rare Dis,2009
3. Erythropoietic protoporphyria without skin symptoms-you do not always see what they feel;Lecluse;Eur J Pediatr,2008
4. C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload;Whatley;Am J Hum Genet,2008
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