@article{doi:10.1001/archophthalmol.2012.130, author = {Thompson DA and Lyons RJ and Liasis A and Russell-Eggitt I and Jägle H and Grünewald S}, title = {REtinal on-pathway deficit in congenital disorder of glycosylation due to phosphomannomutase deficiency}, journal = {Archives of Ophthalmology}, volume = {130}, number = {6}, pages = {712-719}, year = {2012}, doi = {10.1001/archophthalmol.2012.130}, URL = { + http://dx.doi.org/10.1001/archophthalmol.2012.130}, eprint = {/data/Journals/OPHTH/24179/ecs120003_712_719.pdf} }