Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): Extending the clinical and molecular spectrum of a rare disease

Autor: Würde, A.E., Reunert, J., Rust, S., Hertzberg, C., Haverkämper, S., Nürnberg, G., Nürnberg, P., Lehle, L., Rossi, R., Marquardt, T.
Zdroj: In Molecular Genetics and Metabolism April 2012 105(4):634-641
Databáze: ScienceDirect