The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency.
Brown
G K
GK
Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Melbourne, Australia.
Brown
R M
RM
Scholem
R D
RD
Kirby
D M
DM
Dahl
H H
HH
D002478:Cells, Cultured; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D015342:DNA Probes; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008297:Male; D011768:Pyruvate Dehydrogenase Complex / Q000235:genetics; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease
D015342:DNA Probes; D011768:Pyruvate Dehydrogenase Complex; D004247:DNA