Congenital erythropoietic porphyria: Advances in pathogenesis and treatment

British Journal of Haematology

Volumn 117, Issue 4, 2002, Pages 779-795

  Dsnick, Robert J ^a,b   Astrin, Kenneth H ^a  

^a NEW YORK UNIVERSITY   (United States)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Bone marrow transplantation; Congenital erythropoietic porphyria; Gene therapy; Porphyria; Uroporphyrinogen III synthase

Indexed keywords

AMINOLEVULINIC ACID; COMPLEMENTARY DNA; COPROPORPHYRIN; DEFEROXAMINE; HEME; HYDROXYUREA; PORPHOBILINOGEN; PORPHOBILINOGEN SYNTHASE; TATA BINDING PROTEIN; TRANSCRIPTION FACTOR GATA 1; TRANSCRIPTION FACTOR NF E2; TRANSCRIPTION FACTOR SP1; UROPORPHYRIN;

BONE MARROW TRANSPLANTATION; CLINICAL FEATURE; CONGENITAL ERYTHROPOIETIC PORPHYRIA; DISEASE SEVERITY; ENZYME DEFECT; GENE DELETION; GENE INSERTION; GENE SEQUENCE; GENE THERAPY; GENE TRANSFER; GENOTYPE; HEMOLYSIS; HOUSEKEEPING GENE; HUMAN; METABOLIC DISORDER; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATION RATE; NONHUMAN; ONSET AGE; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; REVIEW; SKIN MANIFESTATION; SKIN PROTECTION; SPLENECTOMY; TREATMENT OUTCOME;

ANIMALS; BASE SEQUENCE; BONE MARROW TRANSPLANTATION; GENE THERAPY; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEME; HUMANS; INFANT, NEWBORN; MICE; MICE, KNOCKOUT; MOLECULAR SEQUENCE DATA; MUTATION; PORPHYRIA, ERYTHROPOIETIC; RESEARCH DESIGN; UROPORPHYRINOGEN III SYNTHETASE;

EID: 0036283601     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2002.03557.x     Document Type: Review

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