Severe liver disease in early childhood due to fibrinogen storage and de novo gamma375Arg→Trp gene mutation

Journal of Pediatrics

Volumn 148, Issue 3, 2006, Pages 396-398

  Francalanci, Paola ^a,b   Santorelli, Filippo M ^a,b   Talini, Ilaria ^a,b   Boldrini, Renata ^a,b   Devito, Rita ^a,b   Camassei, Francesca Diomedi ^a,b   Maggiore, Giuseppe ^a,b   Callea, Francesco ^a,b  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b UNIVERSITY OF PISA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; ARGININE; ASPARTATE AMINOTRANSFERASE; FIBRINOGEN; FIBRINOGEN VARIANT; LIVER ENZYME; TRYPTOPHAN;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; ANAMNESIS; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; CASE REPORT; CHILDHOOD DISEASE; CONSANGUINITY; DISEASE COURSE; DISEASE SEVERITY; FOLLOW UP; GENE MUTATION; HUMAN; HYPOFIBRINOGENEMIA; IMMUNOHISTOCHEMISTRY; ITALY; LABORATORY TEST; LIVER BIOPSY; LIVER DISEASE; LIVER FUNCTION TEST; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; WILD TYPE;

AFIBRINOGENEMIA; ALANINE TRANSAMINASE; ASPARTATE AMINOTRANSFERASES; CHILD; CONSANGUINITY; FIBRINOGEN; GAMMA-GLUTAMYLTRANSFERASE; HUMANS; LIVER; MALE; MUTATION; PARTIAL THROMBOPLASTIN TIME; PROTHROMBIN TIME;

EID: 33645963714     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2005.10.007     Document Type: Article

References (6)

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