| 1 | AAMR, GMPPA |
| Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. | |
| Koehler K, Malik M, Mahmood S, Gießelmann S, Beetz C, Hennings JC, Huebner AK, Grahn A, Reunert J, Nürnberg G, Thiele H, Altmüller J, Nürnberg P, Mumtaz R, Babovic-Vuksanovic D, Basel-Vanagaite L, Borck G, Brämswig J, Mühlenberg R, Sarda P, Sikiric A, Anyane-Yeboa K, Zeharia A, Ahmad A, Coubes C, Wada Y, Marquardt T, Vanderschaeghe D, Van Schaftingen E, Kurth I, Huebner A, Hübner CA. | |
| Am J Hum Genet 93(4):727-34. doi: 10.1016/j.ajhg.2013.08.002. Epub 2013 Sep 12. 2013 | |