[Hereditary metabolic muscular diseases caused by demonstrable enzyme defect].
D000659:AMP Deaminase / Q000172:deficiency; D002331:Carnitine / Q000172:deficiency; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency; D005087:Glucan 1,4-alpha-Glucosidase / Q000172:deficiency; D006019:Glycolysis; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D008931:Mitochondria, Muscle; D009135:Muscular Diseases / Q000235:genetics* / Q000628:therapy; D010732:Phosphofructokinase-1 / Q000172:deficiency; D006005:Phosphorylases / Q000172:deficiency; D014280:Triglycerides; D014969:Xanthine Oxidase / Q000172:deficiency; D000520:alpha-Glucosidases / Q000172:deficiency
D014280:Triglycerides; D014969:Xanthine Oxidase; D002334:Carnitine O-Palmitoyltransferase; D006005:Phosphorylases; D010732:Phosphofructokinase-1; D000520:alpha-Glucosidases; D005087:Glucan 1,4-alpha-Glucosidase; D000659:AMP Deaminase; D002331:Carnitine
Hereditäre metabolische Myopathien durch nachweisbaren Enzymdefekt.