Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis. [electronic resource]
Producer: 20170824Description: 415-422 p. digitalISSN:- 1573-2665
- Acetyl-CoA C-Acetyltransferase -- deficiency
- Acetyl-CoA C-Acyltransferase -- deficiency
- Adolescent
- Adult
- Amino Acid Metabolism, Inborn Errors -- metabolism
- Basal Ganglia -- metabolism
- Child
- Child, Preschool
- Female
- Humans
- Infant
- Infant, Newborn
- Isoleucine -- metabolism
- Ketone Bodies -- metabolism
- Ketosis -- metabolism
- Male
- Mitochondria -- metabolism
- Neonatal Screening -- methods
- Retrospective Studies
- Young Adult
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Publication Type: Journal Article
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