Opladen, Thomas

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