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- [43] Evolution of the retinal function by flash-ERG in one child suffering from neuronal ceroid lipofuscinosis CLN2 treated with cerliponase alpha: case report Documenta Ophthalmologica, 2021, 143 : 99 - 106
- [44] Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 99 (02): : 161 - 163
- [50] Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study LANCET CHILD & ADOLESCENT HEALTH, 2018, 2 (08): : 582 - 590