Clinical and biochemical characteristics and genotype - Phenotype correlation in Finnish variegate porphyria patients

European Journal of Human Genetics

Volumn 10, Issue 10, 2002, Pages 649-657

  von und zu Fraunberg, Mikael ^a   Timonen, Kaisa ^a   Mustajoki, Pertti ^a   Kauppinen, Raili ^a  

^a HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

Mutation; Porphyrin; Poryphyria

Indexed keywords

COPROPORPHYRIN; PROTOPORPHYRIN;

ADOLESCENT; ADULT; ADULTHOOD; AGED; ARTICLE; CHEMICAL ANALYSIS; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATION ANALYSIS; DIAGNOSTIC TEST; DISEASE SEVERITY; FECES ANALYSIS; FEMALE; FINLAND; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INCIDENCE; MAJOR CLINICAL STUDY; MALE; OUTCOMES RESEARCH; PHOTOSENSITIVITY; PORPHYRIA VARIEGATA; PREDICTION; PREVALENCE; PRIORITY JOURNAL; RISK ASSESSMENT; SKIN MANIFESTATION; SYMPTOMATOLOGY; URINALYSIS;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; COPROPORPHYRINS; FECES; FEMALE; FINLAND; FLAVOPROTEINS; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIAL PROTEINS; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PHENOTYPE; PORPHYRIAS, HEPATIC; PROTOPORPHYRINOGEN OXIDASE; PROTOPORPHYRINS; STRUCTURE-ACTIVITY RELATIONSHIP; UROPORPHYRINS;

EID: 0036802677     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200860     Document Type: Article

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