TY  - GEN
AU  - Debray,F-G
AU  - Lambert,M
AU  - Gagne,R
AU  - Maranda,B
AU  - Laframboise,R
AU  - MacKay,N
AU  - Robinson,B H
AU  - Mitchell,G A
TI  - Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia
SN  - 0174-304X
PY  - 2008///0731
KW  - Ataxia
KW  - diagnosis
KW  - Basal Ganglia Diseases
KW  - etiology
KW  - Binding Sites
KW  - genetics
KW  - Brain Diseases, Metabolic
KW  - Child
KW  - Child, Preschool
KW  - Diagnosis, Differential
KW  - Dystonia
KW  - Fatal Outcome
KW  - Humans
KW  - Infant
KW  - Lactic Acid
KW  - blood
KW  - Male
KW  - Movement Disorders
KW  - Muscle Weakness
KW  - Mutation
KW  - Pyruvate Dehydrogenase (Lipoamide)
KW  - Pyruvate Dehydrogenase Complex
KW  - Pyruvate Dehydrogenase Complex Deficiency Disease
KW  - complications
KW  - Thiamine Pyrophosphate
KW  - metabolism
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1055/s-2008-1077084
ER  -