Congenital thrombotic thrombocytopenic purpura with novel mutations in three unrelated turkish children

Pediatric Blood and Cancer

Volumn 61, Issue 3, 2014, Pages 558-561

  Metin, Ayse ^a   Unal, Sule ^b   Gümrük, Fatma ^b   Palla, Roberta ^c,d   Cairo, Andrea ^e   Underwood, Mary ^c,d,f   Gurgey, Aytemiz ^b  

^a MINISTRY OF HEALTH   (Turkey)

^b HACETTEPE UNIVERSITY   (Turkey)

^c UNIVERSITY OF MILAN   (Italy)

^d Luigi Villa Foundation   (Italy)

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

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

ADAMTS13 deficiency; ADAMTS13 mutation; C.1308G>C; C.1709A>G mutations; C.428T>C; Congenital TTP; Thrombotic thrombocytopenic purpura; Upshaw Schulman syndrome

Indexed keywords

FRESH FROZEN PLASMA; HEMOGLOBIN; METHYLPREDNISOLONE; VON WILLEBRAND FACTOR CLEAVING PROTEINASE;

ANEMIA; ARTICLE; BLOOD SMEAR; BRONCHIOLITIS; CASE REPORT; CHILD; CHILDHOOD; CONGENITAL DISORDER; EXCHANGE BLOOD TRANSFUSION; FEMALE; FLUID RESUSCITATION; GENE MUTATION; HEMATOLOGY; HEMOLYTIC UREMIC SYNDROME; HUMAN; HYPERBILIRUBINEMIA; IDIOPATHIC THROMBOCYTOPENIC PURPURA; INFANT; MALE; MOLECULAR DIAGNOSIS; ONSET AGE; PALLOR; PETECHIA; PHOTOTHERAPY; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PURPURA; SCHOOL CHILD; SKIN DEFECT; THROMBOCYTE COUNT; THROMBOCYTOPENIA; THROMBOTIC THROMBOCYTOPENIC PURPURA; TREATMENT RESPONSE; TUBERCULOSIS;

ADAMTS13 DEFICIENCY; ADAMTS13 MUTATION; C.1308G>C; C.1709A>G MUTATIONS; C.428T>C; CONGENITAL TTP; THROMBOTIC THROMBOCYTOPENIC PURPURA; UPSHAW-SCHULMAN SYNDROME;

ADAM PROTEINS; ADOLESCENT; CHILD; FEMALE; HUMANS; INFANT; MALE; MUTATION; PURPURA, THROMBOTIC THROMBOCYTOPENIC;

EID: 84892514594     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.24764     Document Type: Article

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