Pyruvate dehydrogenase E1 alpha deficiency in a family: different clinical presentation in two siblings.
Pediatric Neurology and Medical Genetics, AZ-VUB Brussels, Belgium.
L
L
De Meirleir
N
N
Specola
S
S
Seneca
W
W
Lissens
D000138:Acidosis / Q000201:enzymology / Q000235:genetics; D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics; D002461:Cell Line, Transformed; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D030481:Pyruvate Dehydrogenase (Lipoamide); D011768:Pyruvate Dehydrogenase Complex / Q000235:genetics*
D011768:Pyruvate Dehydrogenase Complex; D030481:Pyruvate Dehydrogenase (Lipoamide); C065640:pyruvate dehydrogenase E1alpha subunit