title: A genetic defect in muscle phosphofructokinase deficiency, a typical clinical entity presenting myogenic hyperuricemia.
authors.affiliation: Osaka University Medical School, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Nakajima
authors.forename: N
authors.initials: N
authors.lastname: Kono
authors.forename: T
authors.initials: T
authors.lastname: Yamasaki
authors.forename: K
authors.initials: K
authors.lastname: Hotta
authors.forename: M
authors.initials: M
authors.lastname: Kawachi
authors.forename: T
authors.initials: T
authors.lastname: Hamaguchi
authors.forename: T
authors.initials: T
authors.lastname: Nishimura
authors.forename: I
authors.initials: I
authors.lastname: Mineo
authors.forename: M
authors.initials: M
authors.lastname: Kuwajima
authors.forename: T
authors.initials: T
authors.lastname: Noguchi
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D006008:Glycogen Storage Disease / Q000201:enzymology / Q000235:genetics; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009132:Muscles / Q000201:enzymology*; D009135:Muscular Diseases / Q000235:genetics* / Q000378:metabolism; D010732:Phosphofructokinase-1 / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics*; D011487:Protein Conformation; D012326:RNA Splicing; D014527:Uric Acid / Q000097:blood*
chemical_list: D014527:Uric Acid; D010732:Phosphofructokinase-1