Unusual clinical presentation in two boys with cytochrome c oxidase deficiency.
Center for Inherited Metabolic Disorders, Charles University, Prague, Czechoslovakia.
M
M
Hrebícek
J
J
Zeman
B
B
Petrák
V
V
Kozich
J
J
Hyánek
J P
JP
Ruiter
R J
RJ
Wanders
F A
FA
Wijburg
D000255:Adenosine Triphosphate / Q000378:metabolism; D001847:Bone Diseases / Q000209:etiology; D001927:Brain Diseases / Q000209:etiology; D002478:Cells, Cultured; D003456:Cryptorchidism / Q000209:etiology; D030401:Cytochrome-c Oxidase Deficiency; D005347:Fibroblasts / Q000201:enzymology; D005971:Glutamates / Q000378:metabolism; D018698:Glutamic Acid; D006801:Humans; D007223:Infant; D008293:Malates / Q000378:metabolism; D008297:Male; D009135:Muscular Diseases / Q000209:etiology
D005971:Glutamates; D008293:Malates; D018698:Glutamic Acid; C030298:malic acid; D000255:Adenosine Triphosphate