Encephalopathy, petechiae, and acrocyanosis with ethylmalonic aciduria associated with muscle cytochrome c oxidase deficiency.
García-Silva
M T
MT
Campos
Y
Y
Ribes
A
A
Briones
P
P
Cabello
A
A
Santos Borbujo
J
J
Arenas
J
J
Garavaglia
B
B
D001927:Brain Diseases / Q000235:genetics / Q000378:metabolism*; D003490:Cyanosis / Q000235:genetics / Q000378:metabolism*; D030401:Cytochrome-c Oxidase Deficiency; D005121:Extremities; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics / Q000378:metabolism*; D008297:Male; D008314:Malonates / Q000652:urine*; D009135:Muscular Diseases / Q000235:genetics / Q000378:metabolism*; D011693:Purpura / Q000235:genetics / Q000378:metabolism*; D013577:Syndrome
D008314:Malonates