Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype.
Garavaglia
B
B
Divisione di Biochimica e Genetica, Istituto Neurologico C. Besta, Milan, Italy.
Colamaria
V
V
Carrara
F
F
Tonin
P
P
Rimoldi
M
M
Uziel
G
G
D030401:Cytochrome-c Oxidase Deficiency; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007558:Italy; D008297:Male; D008314:Malonates / Q000652:urine*; D009132:Muscles / Q000201:enzymology*; D010641:Phenotype
D008314:Malonates; C038080:ethylmalonic acid