Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation. [electronic resource]
Producer: 20120202Description: 792-7 p. digitalISSN:- 1537-6605
- Abnormalities, Multiple -- diagnosis
- Acidosis, Lactic -- genetics
- Amino Acid Sequence
- Base Sequence
- Chromosomes, Human, Pair 4
- Consanguinity
- Energy Metabolism -- genetics
- Epilepsy -- diagnosis
- Escherichia coli -- genetics
- Fatal Outcome
- Fibroblasts -- metabolism
- Gene Expression
- Glycine -- blood
- Homozygote
- Humans
- Infant, Newborn
- Infant, Newborn, Diseases -- diagnosis
- Male
- Mitochondria -- enzymology
- Molecular Sequence Data
- Muscle Hypotonia -- genetics
- Muscle, Skeletal -- enzymology
- Mutation, Missense
- Pyruvate Dehydrogenase Complex -- genetics
- Sequence Analysis, DNA
- Sulfurtransferases -- deficiency
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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