Methylmalonic aciduria and homocystinuria-associated maculopathy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Ophthalmology
Link
http://www.nature.com/articles/eye2010115.pdf
Reference6 articles.
1. Ticho BH, Feist RM, Fishman GA . Nondetectable electroretinogram in combined methylmalonic aciduria and homocystinuria. Ann Ophthalmol 1992; 24: 180–181.
2. Rosenblatt DS, Aspler AL, Shevell MI, Fenton WA, Seashore MR . Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cb1C). J Inherit Metab Dis 1997; 20: 528–538.
3. Gerth C, Morel CF, Feigenbaum A, Levin AV . Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type. J AAPOS 2003; 12: 591–596.
4. Tsina EK, Marsden DL, Hansen RM, Fulton AB . Maculopathy and retinal degeneration in Cobalamin C methylmalonic aciduria and homocystinuria. Arch Ophthalmol 2005; 123: 1143–1146.
5. Ricci D, Pane M, Deodato F, Vasco G, Rando T, Caviglia S et al. Assessment of visual function in children with methylmalonic aciduria and homocystinuria. Neuropediatrics 2005; 36: 181–185.
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3. Retinal Structure in Cobalamin C Disease: Mechanistic and Therapeutic Implications;Ophthalmic Genetics;2014-02-10
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