title: Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype.
authors: Divisione di Biochimica e Genetica, Istituto Neurologico C. Besta, Milan, Italy.
authors: B
authors: B
authors: Garavaglia
authors: V
authors: V
authors: Colamaria
authors: F
authors: F
authors: Carrara
authors: P
authors: P
authors: Tonin
authors: M
authors: M
authors: Rimoldi
authors: G
authors: G
authors: Uziel
mesh_terms: 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
chemical_list: D008314:Malonates; C038080:ethylmalonic acid