Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease)

European Journal of Pediatrics

Volumn 164, Issue 2, 2005, Pages 104-107

  Dupuis Girod, Sophie ^a   Akkari, Véronique ^a   Ged, Cécile ^b   Galambrun, Claire ^a   Kebaïli, Kamila ^a   Deybach, Jean Charles ^c   Claudy, Alain ^d   Geburher, Lucette ^e   Philippe, Noël ^a   De Verneuil, Hubert ^b   Bertrand, Yves ^a  

^a HÔPITAL DEBROUSSE   (France)

^b INSERM   (France)

^c HÔPITAL LOUIS MOURIER   (France)

^d EDOUARD HERRIOT HOSPITAL   (France)

^e ETABLISSEMENT FRANÇAIS DU SANG   (France)

Author keywords

Congenital erythropoietic porphyria; Haematopoietic stem cell transplantation

Indexed keywords

PORPHYRIN; UROPORPHYRINOGEN III SYNTHASE;

ALLELE; ARTICLE; BONE MARROW TRANSPLANTATION; CASE REPORT; CHIMERA; CONGENITAL ERYTHROPOIETIC PORPHYRIA; DISEASE SEVERITY; DNA FINGERPRINTING; ENZYME ACTIVITY; ENZYME DEFICIENCY; ERYTHROCYTE; FEMALE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HLA MATCHING; HUMAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; ORGAN DONOR; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN DEFECT; TREATMENT OUTCOME; URINARY EXCRETION;

CHILD, PRESCHOOL; CHIMERISM; CONSANGUINITY; EXONS; FEMALE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; MALE; MUTATION, MISSENSE; PORPHYRIA, ERYTHROPOIETIC; UROPORPHYRINOGEN III SYNTHETASE;

EID: 20044380709     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-004-1575-x     Document Type: Article

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