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Journal Article
Head & Neck, ISSN 1043-3074, 02/2017, Volume 39, Issue 2, pp. E23 - E28
Journal Article
Journal Article
Ophthalmology, ISSN 0161-6420, 2016, Volume 123, Issue 3, pp. 571 - 582
Purpose To explore the ocular manifestations of cobalamin C ( cblC ) deficiency, an inborn error of intracellular vitamin B12 metabolism. Design Retrospective,... 
Ophthalmology | RETINAL DEGENERATION | HOMOCYSTINURIA CBLC | HOMOCYSTEINE | DRUG-DELIVERY | CBLC-TYPE | DEFECT | OPHTHALMOLOGY | CLINICAL HETEROGENEITY | NATURAL-HISTORY | COMBINED METHYLMALONIC ACIDURIA | CHILDREN | Optical Imaging | Follow-Up Studies | Humans | Nystagmus, Pathologic - genetics | Optic Nerve Diseases - diagnosis | Child, Preschool | Strabismus - genetics | Macular Degeneration - diagnosis | Macular Degeneration - drug therapy | Homocystinuria - physiopathology | Adult | Retrospective Studies | Child | Nystagmus, Pathologic - drug therapy | Visual Acuity - physiology | Hydroxocobalamin - therapeutic use | Electroretinography | Strabismus - physiopathology | Homocystinuria - drug therapy | Macular Degeneration - physiopathology | Optic Nerve Diseases - physiopathology | Tomography, Optical Coherence | Vitamin B 12 Deficiency - diagnosis | Vitamin B Complex - therapeutic use | Strabismus - diagnosis | Vitamin B 12 Deficiency - physiopathology | Injections, Intramuscular | Nystagmus, Pathologic - physiopathology | Vitamin B 12 Deficiency - drug therapy | Vitamin B 12 Deficiency - congenital | Disease Progression | Optic Nerve Diseases - drug therapy | Optic Nerve Diseases - genetics | Carrier Proteins - genetics | Phenotype | Macular Degeneration - genetics | Nystagmus, Pathologic - diagnosis | Adolescent | Vitamin B 12 Deficiency - genetics | Strabismus - drug therapy | Homocystinuria - diagnosis | Homocystinuria - genetics | Biopolymers | Genomics | Index Medicus
Journal Article
Experimental Eye Research, ISSN 0014-4835, 11/2017, Volume 164, pp. 37 - 45
Journal Article
Ophthalmology, ISSN 0161-6420, 2015, Volume 122, Issue 4, pp. 760 - 768
Journal Article
Journal of Neuroinflammation, ISSN 1742-2094, 10/2018, Volume 15, Issue 1, pp. 302 - 302
Journal Article