1. |
Brooks BP, Thompson AH, Sloan JL, et al. Ophthalmic manifestations and long-term visual outcomes in patients with cobalamin C deficiency[J]. Ophthalmology, 2016, 123(3): 571-582. DOI: 10.1016/j.ophtha.2015.10.041.
|
2. |
Fuchs LR, Robert M, Ingster-Moati I, et al. Ocular manifestations of cobalamin C type methylmalonic aciduria with homocystinuria[J]. J AAPOS, 2012, 16(4): 370-375. DOI: 10.1016/j.jaapos.2012.02.019.
|
3. |
Ku CA, Ng JK, Karr DJ, et al. Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia[J]. Ophthalmic Genet, 2016, 37(4): 404-414. DOI: 10.3109/13816810.2015.1121500.
|
4. |
宇亚芬, 黎芳, 麻宏伟. cbIC型甲基丙二酸血症基因型与临床表型及疗效的关系[J]. 中国当代儿科杂志, 2015, 17(8): 769-774. DOI: 10.7499/j.issn.1008-8830.2015.08.002.Yu YF, Li F, Ma HW. Relationship of genotypes with clinical phenotypes and outcomes in children with cobalamin C type combined methylmalonic aciduria and homocystinuria[J]. Chin J Contemp Pediatr, 2015, 17(8): 769-774. DOI: 10.7499/j.issn.1008-8830.2015.08.002.
|
5. |
Wang C, Li D, Cai F, et al. Mutation spectrum of MMACHC in Chinese pediatric patients with cobalamin C disease: a case series and literature review[J/OL]. Eur J Med Genet, 2019, 62(10): 103713[2019-07-04]. https://pubmed.ncbi.nlm.nih.gov/31279840/. DOI: 10.1016/j.ejmg.2019.103713.
|
6. |
Kiessling E, Notzli S, Todorova V, et al. Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice[J/OL]. Biochim Biophys Acta Mol Basis Dis, 2021, 1867(10): 166201[2021-10-01]. https://pubmed.ncbi.nlm.nih.gov/34147638/. DOI: 10.1016/j.bbadis.2021.166201.
|
7. |
Tsina EK, Marsden DL, Hansen RM, et al. Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria[J]. Arch Ophthalmol, 2005, 123(8): 1143-1146. DOI: 10.1001/archopht.123.8.1143.
|
8. |
Collison FT, Xie YA, Gambin T, et al. Whole exome sequencing identifies an adult-onset case of methylmalonic aciduria and homocystinuria type C (cblC) with non-syndromic Bull's eye maculopathy[J]. Ophthalmic Genet, 2015, 36(3): 270-275. DOI: 10.3109/13816810.2015.1010736.
|
9. |
Gerth C, Morel CF, Feigenbaum A, et al. Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type[J]. J AAPOS, 2008, 12(6): 591-596. DOI: 10.1016/j.jaapos.2008.06.008.
|
10. |
Matmat K, Gueant-Rodriguez RM, Oussalah A, et al. Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review[J]. Hum Genet, 2021, 141(7): 1239-1251. DOI: 10.1007/s00439-021-02350-8.
|
11. |
杨秀芬, 刘宁朴. 牛眼样黄斑病变[J]. 国际眼科纵览, 2007, 31(5): 343-347. DOI: 10.3760/cma.j.issn.1673-5803.2007.05.013.Yang XF, Liu NP. Bull's eye maculopathy[J]. Int Rev Ophthalmol, 2007, 31(5): 343-347. DOI: 10.3760/cma.j.issn.1673-5803.2007.05.013.
|
12. |
Francis JH, Rao L, Rosen RB. Methylmalonic aciduria and homocystinuria-associated maculopathy[J]. Eye (Lond), 2010, 24(11): 1731-1732. DOI: 10.1038/eye.2010.115.
|
13. |
Carrillo-Carrasco N, Venditti CP. Combined methylmalonic acidemia and homocystinuria, cblC type. Ⅱ. complications, pathophysiology, and outcomes[J]. J Inherit Metab Dis, 2012, 35(1): 103-114. DOI: 10.1007/s10545-011-9365-x.
|
14. |
Martinez Alvarez L, Jameson E, Parry NR, et al. Optic neuropathy in methylmalonic acidemia and propionic acidemia[J]. Br J Ophthalmol, 2016, 100(1): 98-104. DOI: 10.1136/bjophthalmol-2015-306798.
|
15. |
Williams ZR, Hurley PE, Altiparmak UE, et al. Late onset optic neuropathy in methylmalonic and propionic acidemia[J]. Am J Ophthalmol, 2009, 147(5): 929-933. DOI: 10.1016/j.ajo.2008.12.024.
|
16. |
Patton N, Beatty S, Lloyd IC, et al. Optic atrophy in association with cobalamin C (cblC) disease[J]. Ophthalmic Genet, 2000, 21(3): 151-154. DOI: 10.1076/1381-6810(200009)2131-ZFT151.
|
17. |
Pinar-Sueiro S, Martinez-Fernandez R, Lage-Medina S, et al. Optic neuropathy in methylmalonic acidemia: the role of neuroprotection[J]. J Inherit Metab Dis, 2010, 33(Suppl 3): S199-203. DOI: 10.1007/s10545-010-9084-8.
|