[Methylmalonic acidemia. Diagnosis and treatment in various patients].
D000138:Acidosis / Q000378:metabolism; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000628:therapy; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology; D008297:Male; D008314:Malonates / Q000378:metabolism*; D008764:Methylmalonic Acid / Q000378:metabolism* / Q000652:urine; D008765:Methylmalonyl-CoA Mutase / Q000378:metabolism
D008314:Malonates; D008764:Methylmalonic Acid; D008765:Methylmalonyl-CoA Mutase
Methylmalonacidemie. Ervaringen met diagnostiek en behandeling bij enkele patiënten.