Dual porphyrias revisited

Experimental Dermatology

Volumn 15, Issue 9, 2006, Pages 685-691

  Poblete Gutiérrez, Pamela ^a   Badeloe, Sadhanna ^a   Wiederholt, Tonio ^b   Merk, Hans F ^b   Frank, Jorge ^a,b  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

Author keywords

Compound heterozygous; Double enzyme deficiency; Dual porphyrias; Enzyme deficiency; Haeme biosynthesis; Heterozygous; Porphyria

Indexed keywords

COPROPORPHYRINOGEN OXIDASE; PORPHOBILINOGEN DEAMINASE; PROTOPORPHYRINOGEN OXIDASE; UROPORPHYRINOGEN DECARBOXYLASE;

ACUTE INTERMITTENT PORPHYRIA; ANAMNESIS; AUTOSOMAL DOMINANT INHERITANCE; BLOOD ANALYSIS; CHROMOSOME 11Q; CLINICAL EXAMINATION; CLINICAL FEATURE; CONGENITAL ERYTHROPOIETIC PORPHYRIA; COPROPORPHYRIA; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DISEASE CLASSIFICATION; DNA ISOLATION; DRUG CONTRAINDICATION; DRUG SAFETY; ENZYME ASSAY; FEASIBILITY STUDY; FECES ANALYSIS; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; HEME SYNTHESIS; HEPATOERYTHROPOIETIC PORPHYRIA; HUMAN; LABORATORY DIAGNOSIS; MOLECULAR CLONING; MOLECULAR GENETICS; PATHOGENESIS; POLYMERASE CHAIN REACTION; PORPHYRIA; PORPHYRIA CUTANEA TARDA; PORPHYRIA VARIEGATA; REVIEW; RISK ASSESSMENT; RISK FACTOR; URINALYSIS;

DNA MUTATIONAL ANALYSIS; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; PORPHYRIAS; SKIN DISEASES, GENETIC;

EID: 33746651197     PISSN: 09066705     EISSN: 16000625     Source Type: Journal    
DOI: 10.1111/j.1600-0625.2006.00464.x     Document Type: Review

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