TY  - GEN
AU  - Mayr,Johannes A
AU  - Zimmermann,Franz A
AU  - Fauth,Christine
AU  - Bergheim,Christa
AU  - Meierhofer,David
AU  - Radmayr,Doris
AU  - Zschocke,Johannes
AU  - Koch,Johannes
AU  - Sperl,Wolfgang
TI  - Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation
SN  - 1537-6605
PY  - 2012///0202
KW  - Abnormalities, Multiple
KW  - diagnosis
KW  - Acidosis, Lactic
KW  - genetics
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Chromosomes, Human, Pair 4
KW  - Consanguinity
KW  - Energy Metabolism
KW  - Epilepsy
KW  - Escherichia coli
KW  - Fatal Outcome
KW  - Fibroblasts
KW  - metabolism
KW  - Gene Expression
KW  - Glycine
KW  - blood
KW  - Homozygote
KW  - Humans
KW  - Infant, Newborn
KW  - Infant, Newborn, Diseases
KW  - Male
KW  - Mitochondria
KW  - enzymology
KW  - Molecular Sequence Data
KW  - Muscle Hypotonia
KW  - Muscle, Skeletal
KW  - Mutation, Missense
KW  - Pyruvate Dehydrogenase Complex
KW  - Sequence Analysis, DNA
KW  - Sulfurtransferases
KW  - deficiency
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2011.11.011
ER  -