A genetic defect in muscle phosphofructokinase deficiency, a typical clinical entity presenting myogenic hyperuricemia.
Nakajima
H
H
Osaka University Medical School, Japan.
Kono
N
N
Yamasaki
T
T
Hotta
K
K
Kawachi
M
M
Hamaguchi
T
T
Nishimura
T
T
Mineo
I
I
Kuwajima
M
M
Noguchi
T
T
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*
D014527:Uric Acid; D010732:Phosphofructokinase-1