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Eriko Nishi
Eriko Nishi

Public Documents 1
First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pa...
Eriko Nishi
Kumiko Yanagi

Eriko Nishi

and 9 more

January 09, 2025
Neuronal ceroid lipofuscinoses (NCL) are inherited neurodegenerative diseases characterized by psychomotor regression, seizures, and visual impairment, due to intracellular accumulation of lipofuscin. CLN5, a subtype manifesting from ages 4 to 17, is particularly rare in non-Finnish populations. Here, we report Japanese first case of CLN5 in an 11-year-old girl with progressive

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