TY  - GEN
AU  - Matthews,P M
AU  - Brown,R M
AU  - Otero,L J
AU  - Marchington,D R
AU  - LeGris,M
AU  - Howes,R
AU  - Meadows,L S
AU  - Shevell,M
AU  - Scriver,C R
AU  - Brown,G K
TI  - Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients
SN  - 0006-8950
PY  - 1994///0818
KW  - Base Sequence
KW  - Female
KW  - Gene Expression Regulation, Enzymologic
KW  - Genetic Linkage
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Pyruvate Dehydrogenase Complex
KW  - genetics
KW  - Pyruvate Dehydrogenase Complex Deficiency Disease
KW  - X Chromosome
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/brain/117.3.435
ER  -