Hypersomnolence-hyperkinetic movement disorder in a child with compound heterozygous mutation in 4-aminobutyrate aminotransferase (ABAT) gene. [electronic resource]
Producer: 20170214Description: 161-165 p. digitalISSN:- 1872-7131
- 4-Aminobutyrate Transaminase -- deficiency
- Brain -- diagnostic imaging
- Developmental Disabilities -- diagnostic imaging
- Diagnosis, Differential
- Disorders of Excessive Somnolence -- diagnostic imaging
- Female
- Follow-Up Studies
- Heterozygote
- Humans
- Hyperkinesis -- diagnostic imaging
- Infant
- Mutation, Missense
- Sequence Homology, Amino Acid
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Publication Type: Case Reports; Journal Article
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