The difficult clinical diagnosis of erythropoietic protoporphyria

Physiological Research

Volumn 55, Issue SUPPL. 2, 2006, Pages

  Wahlin, S ^a   Floderus, Y ^a   Ros, A M ^a   Broome U ^a   Harper, P ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Diagnosis; Erythropoietic protoporphyria (EPP); Protoporphyrin; Sunshine intolerance

Indexed keywords

ARTICLE; ERYTHROPOIETIC PROTOPORPHYRIA; HUMAN; PHOTOSENSITIVITY DISORDER; QUALITY OF LIFE; SUNLIGHT; SWEDEN;

HUMANS; PHOTOSENSITIVITY DISORDERS; PROTOPORPHYRIA, ERYTHROPOIETIC; QUALITY OF LIFE; SUNLIGHT; SWEDEN;

EID: 33847136422     PISSN: 08628408     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

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8. THUNELL S, HARPER P, BRUN A: Porphyrins, porphyrin metabolism and porphyrias. IV. Pathophysiology of erythyropoietic protoporphyria - diagnosis, care and monitoring of the patient. Scand J Clin Lab Invest 60: 581-604, 2000.
9. TODD DJ: Erythropoietic protoporphyria. Br J Dermatol 131: 751-766, 1994.
10. WIMAN A, FLODERUS Y, HARPER P: Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria. J Hum Genet 48: 70-76, 2003.