Progressive generalized brain atrophy and infantile spasms associated with cytochrome c oxidase deficiency.
Bakker
H D
HD
Emma Kinderziekenhuis/AMC, Amsterdam, The Netherlands.
Van den Bogert
C
C
Drewes
J G
JG
Barth
P G
PG
Scholte
H R
HR
Wanders
R J
RJ
Ruitenbeek
W
W
D000138:Acidosis / Q000209:etiology; D001284:Atrophy; D001921:Brain / Q000473:pathology*; D030401:Cytochrome-c Oxidase Deficiency; D006801:Humans; D007231:Infant, Newborn; D007773:Lactates / Q000097:blood; D019344:Lactic Acid; D008279:Magnetic Resonance Imaging; D008297:Male; D011773:Pyruvates / Q000097:blood; D019289:Pyruvic Acid; D013036:Spasms, Infantile / Q000209:etiology*
D007773:Lactates; D011773:Pyruvates; D019344:Lactic Acid; D019289:Pyruvic Acid