New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care

European Journal of Pediatrics

Volumn 159, Issue 10, 2000, Pages 719-725

  Schneider Yin, Xiaoye ^a   Gouya, Laurent ^b   Meier Weinand, Almut ^c   Deybach, Jean Charles ^b   Minder, Elisabeth I ^a  

^a Zentrallabor   (Switzerland)

^b HÔPITAL LOUIS MOURIER   (France)

^c LUZERNER KANTONSSPITAL   (Switzerland)

Author keywords

Erythropoietic protoporphyria; Ferrochelatase; Inheritance; Mutation; Therapy

Indexed keywords

BETA CAROTENE; FERROCHELATASE; HEME; IRON; PROTOPORPHYRIN; SUNSCREEN;

AUTOSOMAL DOMINANT DISORDER; CHILD CARE; DNA POLYMORPHISM; ENZYME DEFICIENCY; ERYTHROPOIETIC PROTOPORPHYRIA; GENE MUTATION; GENETIC MARKER; HAPLOTYPE; INHERITANCE; LIVER FAILURE; LIVER TRANSPLANTATION; MISSENSE MUTATION; PATIENT CARE; PENETRANCE; PHOTOSENSITIVITY; PRIORITY JOURNAL; PROMOTER REGION; REVIEW;

ALLELES; FERROCHELATASE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; LIVER DISEASES; LYMPHOCYTES; MUTATION; PHENOTYPE; PHOTOSENSITIVITY DISORDERS; POLYMORPHISM, GENETIC; PORPHYRIA, HEPATOERYTHROPOIETIC; PROTOPORPHYRIA, ERYTHROPOIETIC; SWITZERLAND;

EID: 0033813299     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310000494     Document Type: Review

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