CAD mutations and uridine-responsive epileptic encephalopathy. [electronic resource]
Producer: 20170512Description: 279-286 p. digitalISSN:- 1460-2156
- Anemia -- complications
- Aspartate Carbamoyltransferase -- genetics
- Brain -- diagnostic imaging
- Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing) -- genetics
- Child
- Child, Preschool
- DNA Mutational Analysis
- Developmental Disabilities -- complications
- Dihydroorotase -- genetics
- Female
- Humans
- Infant
- Magnetic Resonance Imaging
- Male
- Mutation -- genetics
- Spasms, Infantile -- complications
- Uridine -- therapeutic use
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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