Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy.
Sedel
F
F
Challe
G
G
Mayer
J-M
JM
Boutron
A
A
Fontaine
B
B
Saudubray
J M
JM
Brivet
M
M
D000328:Adult; D000367:Age Factors; D006801:Humans; D008297:Male; D009901:Optic Nerve Diseases / Q000209:etiology*; D010523:Peripheral Nervous System Diseases / Q000209:etiology*; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000150:complications / Q000188:drug therapy*; D013831:Thiamine / Q000627:therapeutic use*; D014803:Vitamin B Complex / Q000627:therapeutic use*
D014803:Vitamin B Complex; D013831:Thiamine