Clinical, biochemical and genetic characteristics of variegate porphyria in Italy

Cellular and Molecular Biology

Volumn 55, Issue 2, 2009, Pages 79-88

  Di Pierro, Elena ^a,c   Ventura, P ^b   Brancaleoni, V ^a   Moriondo, V ^b   Marchini, S ^b   Tavazzi, D ^a   Nascimbeni, F ^b   Ferrari, M C ^b   Rocchi, E ^b   Cappellini, M D ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^c FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

Heme; Mutation; Porphyrias; Porphyrins; Protoporhyrinogen oxidase; Variegate Porphyria

Indexed keywords

PROTOPORPHYRIN;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FECES ANALYSIS; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; ITALY; MALE; PHENOTYPE; PHOTOSENSITIVITY; PORPHYRIA VARIEGATA; URINARY EXCRETION;

ADULT; AGED; AMINOLEVULINIC ACID; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; FLAVOPROTEINS; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; ITALY; MALE; MIDDLE AGED; MITOCHONDRIAL PROTEINS; POLYMORPHISM, GENETIC; PORPHOBILINOGEN; PORPHYRIA, VARIEGATE; PORPHYRINS; PROTOPORPHYRINOGEN OXIDASE;

EID: 68549085540     PISSN: 01455680     EISSN: 1165158X     Source Type: Journal    
DOI: 10.1170/T856     Document Type: Article

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