Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family. [electronic resource]
- Journal of child neurology Jan 2014
- 36-42 p. digital
Publication Type: Case Reports; Journal Article
1708-8283
10.1177/0883073812469049 doi
Adolescent Aspartylglucosaminuria--genetics Aspartylglucosylaminase--genetics Brain--pathology Consanguinity Electroencephalography Family Health Female Humans Infant Magnetic Resonance Imaging Mutation--genetics Qatar Turkey Twins--genetics