Recurrent muscle weakness and ataxia in thiamine-responsive pyruvate dehydrogenase complex deficiency.
Kinoshita
H
H
Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan.
Sakuragawa
N
N
Tada
H
H
Naito
E
E
Kuroda
Y
Y
Nonaka
I
I
D002675:Child, Preschool; D006801:Humans; D008214:Lymphocytes / Q000201:enzymology*; D008297:Male; D018908:Muscle Weakness / Q000209:etiology* / Q000473:pathology; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D011768:Pyruvate Dehydrogenase Complex / Q000032:analysis; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D013831:Thiamine / Q000008:administration & dosage
D011768:Pyruvate Dehydrogenase Complex; D013831:Thiamine