Patricie Burda

Exome Sequencing and the Management of Neurometabolic Disorders.

Andrea Superti-Furga, Rupasri Mandal, Wyeth W Wasserman, 2016, The New England journal of medicine.

Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

Gert Matthijs, Ron A. Wevers, Thierry Hennet, 2000, Human Genetics.