| 1 | ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, CDG1A, CDG1B, CDG1C, CDG1D, CDG1E, CDG1F, CDG1G, CDG1H, CDG1I, CDG1J, CDG1K, CDG1L, CDG1N, CDG1O, DK1D, DOLK, DPAGT1, DPM1, DPM3, MPDU1, MPI, PMM2, RFT1 |
| Congenital disorders of glycosylation: An update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. | |
| Haeuptle MA, Hennet T. | |
| Hum Mutat um Mutat. 2009 Oct 27. [Epub ahead of print] 2009 | |
| 2 | DOLK, DK1D |
| A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. | |
| Kranz C, Jungeblut C, Denecke J, Erlekotte A, Sohlbach C, Debus V, Kehl HG, Harms E, Reith A, Reichel S, Grobe H, Hammersen G, Schwarzer U, Marquardt T. | |
| Am J Hum Genet 80(3):433-40. Epub 2007 Jan 31. 2007 | |