| Identifier |
20090224_nanos_posters_066.pdf |
| Title |
CDG-Ia Revealed by Delayed Visual Maturation and Ocular Motor Disorders in a 4-Month-old Girl |
| Creator |
Eliane Delouvrier; Florence Rigaudière; Nadia Bahi-Buisson; Pascale De Lonlay |
| Affiliation |
(ED) Hopital Robert Debre, AP-HP, Paris, France; (FR) Hopital Lariboisière, AP-HP, Paris, France; (NB) (PD) Hopital Necker, AP-HP, Paris, France |
| Subject |
CDG-Ia; Ocular Motor Disorders; Strabismus; Delayed Visual Maturation; Cerebellar Hypoplasia |
| Description |
Congenital Disorders of Glycosylation (CDG) are a family of multisystem inherited disorders caused by defects in the biosynthesis of N- or O-glycans. CDG-Ia is the most common type of CDG. It is an autosomal recessive disease caused by mutations in the gene PPM2 encoding phophomannomutase, an enzyme that synthesizes mannose-1-phosphate. |
| Date |
2009-02-24 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2009 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS 2009: Poster Presentations |
| Collection |
Neuro-Ophthalmology Virtual Education Library: NANOS Annual Meeting Collection: https://novel.utah.edu/collection/nanos-annual-meeting-collection/ |
| Publisher |
North American Neuro-Ophthalmology Society |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Rights Management |
Copyright 2010. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6dn7bch |
| Setname |
ehsl_novel_nam |
| ID |
180614 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6dn7bch |
