Two patients with Canavan disease and structural modeling of a novel mutation. [electronic resource]
- Metabolic brain disease 02 2017
- 171-177 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1573-7365
10.1007/s11011-016-9896-9 doi
Brain--diagnostic imaging Canavan Disease--diagnostic imaging Humans Infant Magnetic Resonance Imaging Magnetic Resonance Spectroscopy Male Models, Molecular Mutation Mutation, Missense Protein Conformation