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Retinal characteristics of the congenital disorder of glycosylation PMM2‐CDG
Thompson, Dorothy A.
, Lyons, Ruth J., Russell‐Eggitt, Isabelle, Liasis, Alki , Jägle, Herbert and Grünewald, Stephanie
(2013)
Retinal characteristics of the congenital disorder of glycosylation PMM2‐CDG.
Journal of Inherited Metabolic Disease 36 (6), pp. 1039-1047.
Date of publication of this fulltext: 19 Dec 2024 08:32
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| Item type | Article | ||||
| Journal or Publication Title | Journal of Inherited Metabolic Disease | ||||
| Publisher: | SPRINGER | ||||
|---|---|---|---|---|---|
| Place of Publication: | DORDRECHT | ||||
| Volume: | 36 | ||||
| Number of Issue or Book Chapter: | 6 | ||||
| Page Range: | pp. 1039-1047 | ||||
| Date | 2013 | ||||
| Institutions | Medicine > Lehrstuhl für Augenheilkunde | ||||
| Identification Number |
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| Keywords | DEFICIENT-GLYCOPROTEIN SYNDROME; RETINITIS-PIGMENTOSA; NIGHT BLINDNESS; HIGH MYOPIA; MUTATIONS; EXPRESSION; CHANNELS; ELECTRORETINOGRAPHY; CONNEXIN36; GENES; | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 62119 |
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