Defect in the X-lipoyl-containing component of the pyruvate dehydrogenase complex in a patient with neonatal lactic acidemia.
Geoffroy
V
V
INSERM U30, Hôpital Necker-Enfants-Malades, Paris, France.
Fouque
F
F
Benelli
C
C
Poggi
F
F
Saudubray
J M
JM
Lissens
W
W
Meirleir
L D
LD
Marsac
C
C
Lindsay
J G
JG
Sanderson
S J
SJ
D000140:Acidosis, Lactic / Q000201:enzymology*; D015153:Blotting, Western; D005260:Female; D005347:Fibroblasts; D006801:Humans; D007231:Infant, Newborn; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000150:complications / Q000235:genetics* / Q000378:metabolism