Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A.
Kreuder
J
J
Department of Pediatrics, Justus-Liebig University, Giessen, Germany.
Borkhardt
A
A
Repp
R
R
Pekrun
A
A
Göttsche
B
B
Gottschalk
U
U
Reichmann
H
H
Schachenmayr
W
W
Schlegel
K
K
Lampert
F
F
D000255:Adenosine Triphosphate / Q000032:analysis; D001483:Base Sequence; D002675:Child, Preschool; D004912:Erythrocytes / Q000201:enzymology / Q000378:metabolism; D005634:Fructose-Bisphosphate Aldolase / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D006461:Hemolysis / Q000235:genetics*; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008969:Molecular Sequence Data; D018763:Muscle Fatigue / Q000235:genetics; D018908:Muscle Weakness / Q000235:genetics* / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology / Q000648:ultrastructure; D017354:Point Mutation
D000255:Adenosine Triphosphate; D005634:Fructose-Bisphosphate Aldolase