Fibrinogen storage disease caused by Aguadilla mutation presenting with hypobeta-lipoproteinemia and considerable liver disease.
Sogo
Tsuyoshi
T
Children's Center for Health and Development, Saiseikai Yokohama City Tobu Hospital, Yokohama, Japan. so5244ibukick@kdp.biglobe.ne.jp
Nagasaka
Hironori
H
Komatsu
Haruki
H
Inui
Ayano
A
Miida
Takashi
T
Callea
Francesco
F
Francalanci
Paola
P
Hirano
Ken-Ichi
K
Kitamura
Hajime
H
Yorifuji
Toru
T
Fujisawa
Tomoo
T
D002675:Child, Preschool; D004721:Endoplasmic Reticulum / Q000378:metabolism; D015241:Fibrinogens, Abnormal / Q000235:genetics* / Q000378:metabolism; D020022:Genetic Predisposition to Disease; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000235:genetics*; D008107:Liver Diseases / Q000235:genetics*; D008297:Male; D008659:Metabolic Diseases / Q000235:genetics*; D009154:Mutation
D015241:Fibrinogens, Abnormal