TY  - GEN
AU  - Longo,N
AU  - Fukao,T
AU  - Singh,R
AU  - Pasquali,M
AU  - Barrios,R G
AU  - Kondo,N
AU  - Gibson,K M
TI  - Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation
SN  - 0141-8955
PY  - 2005///0324
KW  - Acidosis
KW  - genetics
KW  - Child, Preschool
KW  - Coenzyme A-Transferases
KW  - deficiency
KW  - Consanguinity
KW  - Dialysis
KW  - Female
KW  - Homozygote
KW  - Humans
KW  - Mutation
KW  - Time Factors
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1023/b:boli.0000043023.57321.18
ER  -