Fibrinogen storage disease caused by aguadilla mutation presenting with hypobeta-lipoproteinemia and considerable liver disease

Journal of Pediatric Gastroenterology and Nutrition

Volumn 49, Issue 1, 2009, Pages 133-136

  Sogo, Tsuyoshi ^a   Nagasaka, Hironori ^b   Komatsu, Haruki ^a   Inui, Ayano ^a   Miida, Takashi ^c   Callea, Francesco ^g   Francalanci, Paola ^g   Hirano, Ken Ichi ^d   Kitamura, Hajime ^e   Yorifuji, Toru ^f   Fujisawa, Tomoo ^a  

^a SAISEIKAI YOKOHAMASHI TOBU HOSPITAL   (Japan)

^b CHIBA CHILDREN'S HOSPITAL   (Japan)

^c Osaka City University   (Japan)

^d OSAKA UNIVERSITY   (Japan)

^e International University of Health and Welfare   (Japan)

^f KYOTO UNIVERSITY   (Japan)

^g BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; ALBUMIN; ALPHA 1 ANTITRYPSIN; APOLIPOPROTEIN A; ARGININE; ASPARTATE AMINOTRANSFERASE; CERULOPLASMIN; CHOLINESTERASE; FIBRINOGEN; GAMMA GLUTAMYLTRANSFERASE; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; TRIACYLGLYCEROL;

ANAMNESIS; ARTICLE; CASE REPORT; CERULOPLASMIN BLOOD LEVEL; CHILD; DNA SEQUENCE; FIBRINOGEN STORAGE DISEASE; HUMAN; HYPOBETALIPOPROTEINEMIA; HYPOFIBRINOGENEMIA; JAPANESE; LIVER DYSFUNCTION; LIVER INJURY; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; STORAGE DISEASE;

CHILD, PRESCHOOL; ENDOPLASMIC RETICULUM; FIBRINOGENS, ABNORMAL; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPOBETALIPOPROTEINEMIAS; LIVER DISEASES; MALE; METABOLIC DISEASES; MUTATION;

EID: 67651009442     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/MPG.0b013e31817ed7ea     Document Type: Article

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