| 1. |
Carrillo-Carrasco N, Chandler RJ, Venditti CP. Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management[J]. J Inherit Metab Dis, 2012, 35(1): 91-102. DOI: 10.1007/s10545-011-9364-y.
|
| 2. |
Chan W, Almasieh M, Catrinescu MM, et al. Cobalamin-associated superoxide scavenging in neuronal cells is a potential mechanism for vitamin B12-deprivation optic neuropathy[J]. Am J Pathol, 2018, 188(1): 160-172. DOI: 10.1016/j.ajpath.2017.08.032.
|
| 3. |
Wang X, Yang Y, Li X, et al. Distinct clinical, neuroimaging and genetic profiles of late-onset cobalamin C defects(cb1C): a report of 16 Chinese cases[J/OL]. Orphanet J Rare Dis, 2019, 14(1): 109[2019-05-15]. https://pubmed.ncbi.nlm.nih.gov/31092259/. DOI: 10.1186/s13023-019-1058-9.
|
| 4. |
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.
|
| 5. |
Bonafede L, Ficicioglu CH, Serrano L, et al. Cobalamin C deficiency shows a rapidly progressing maculopathy with severe photoreceptor and ganglion cell loss[J]. Invest Ophthalmol Vis Sci, 2015, 56(13): 7875-7887. DOI: 10.1167/iovs.15-17857.
|
| 6. |
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.
|
| 7. |
Wang SJ, Yan CZ, Wen B, et al. Clinical feature and outcome of late-onset cobalamin C disease patients with neuropsychiatric presentations: a Chinese case series[J]. Neuropsychiatr Dis Treat, 2019, 15: 549-555. DOI: 10.2147/NDT.S196924.
|
| 8. |
Tanna P, Strauss RW, Fujinami K, et al. Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options[J]. Br J Ophthalmol, 2017, 101(1): 25-30. DOI: 10.1136/bjophthalmol-2016-308823.
|
| 9. |
Rahman N, Georgiou M, Khan KN, et al. Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options[J]. Br J Ophthalmol, 2020, 104(4): 451-460. DOI: 10.1136/bjophthalmol-2019-315086.
|
| 10. |
Fujinami K, Zernant J, Chana RK, et al. Clinical and molecular characteristics of childhood-onset Stargardt disease[J]. Ophthalmology, 2015, 122(2): 326-334. DOI: 10.1016/j.ophtha.2014.08.012.
|
| 11. |
Cicinelli MV, Battista M, Starace V, et al. Monitoring and management of the patient with Stargardt disease[J]. Clin Optom (Auckl), 2019, 11: 151-165. DOI: 10.2147/OPTO.S226595.
|
| 12. |
Zhao PY, Abalem MF, Nadelman D, et al. Peripheral pigmented retinal lesions in Stargardt disease[J]. Am J Ophthalmol, 2018, 188: 104-110. DOI: 10.1016/j.ajo.2017.12.011.
|
| 13. |
Xiang Q, Cao Y, Xu H, et al. Identification of novel pathogenic ABCA4 variants in a Han Chinese family with Stargardt disease[J/OL]. Biosci Rep, 2019, 39(1): BSR20180872[2019-01-15]. https://pubmed.ncbi.nlm.nih.gov/30563929/.DOI: 10.1042/BSR20180872.
|
| 14. |
Collison FT, Lee W, Fishman GA, et al. Clinical characterization of Stargardt disease patients with the p. N1868I ABCA4 mutation[J]. Retina, 2019, 39(12): 2311-2325. DOI: 10.1097/IAE.0000000000002316.
|
| 15. |
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.
|
| 16. |
Almannai M, Marom R, Divin K, et al. Milder clinical and biochemical phenotypes associated with the c. 482G>A (p. Arg161Gln) pathogenic variant in cobalamin C disease: implications for management and screening[J]. Mol Genet Metab, 2017, 122(1-2): 60-66. DOI: 10.1016/j.ymgme.2017.06.011.
|
