Rare Diseases

Current bibliography for experts

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CLN2

Visual perception and macular integrity in non-classical CLN2 disease

2022-11-01

The aim of the study was to provide longitudinal ophthalmic data of CLN2 patients with confirmed genetic mutation and non-classical disease course, marked by later onset, protracted progression and prolonged life span.

CLN2

Presymptomatic treatment of classic late-infantile neuronal ceroid lipofuscinosis with cerliponase alfa

2021-05-14

Cerliponase alfa is able to postpone the onset of symptoms when used in the presymptomatic stage of neuronal ceroid lipofuscinosis type 2 (CLN2 disease).

CLN2

Changing Times for CLN2 Disease: The Era of Enzyme Replacement Therapy

2020-03-30

The natural history of CLN2 disease, its diagnosis and management, and the preclinical and clinical development of cerliponase alfa, were all described in this study. Cerliponase alfa administration in patients with CLN2 disease resulted in significant reductions in the rate of decline of motor and language functions.

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