title: Fibrinogen storage disease caused by Aguadilla mutation presenting with hypobeta-lipoproteinemia and considerable liver disease.
authors.affiliation: Children's Center for Health and Development, Saiseikai Yokohama City Tobu Hospital, Yokohama, Japan. so5244ibukick@kdp.biglobe.ne.jp
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Sogo
authors.forename: Hironori
authors.initials: H
authors.lastname: Nagasaka
authors.forename: Haruki
authors.initials: H
authors.lastname: Komatsu
authors.forename: Ayano
authors.initials: A
authors.lastname: Inui
authors.forename: Takashi
authors.initials: T
authors.lastname: Miida
authors.forename: Francesco
authors.initials: F
authors.lastname: Callea
authors.forename: Paola
authors.initials: P
authors.lastname: Francalanci
authors.forename: Ken-Ichi
authors.initials: K
authors.lastname: Hirano
authors.forename: Hajime
authors.initials: H
authors.lastname: Kitamura
authors.forename: Toru
authors.initials: T
authors.lastname: Yorifuji
authors.forename: Tomoo
authors.initials: T
authors.lastname: Fujisawa
mesh_terms: 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
chemical_list: D015241:Fibrinogens, Abnormal