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The Genetic Spectrum of Human Neuronal Ceroid‐lipofuscinoses

The neuronal ceroid lipofuscinoses (NCL), also known as Batten disease, are a group of inherited severe neurodegenerative disorders primarily affecting children. They are characterised by the accumulation of autofluorescent storage material in many cells. Children suffer from visual failure, seizure...

Полное описание

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Библиографические подробности
Опубликовано в: :Brain Pathol
Главный автор: Mole, Sara E.
Формат: Artigo
Язык:Inglês
Опубликовано: Blackwell Publishing Ltd 2006
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC8095883/
https://ncbi.nlm.nih.gov/pubmed/14997939
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1750-3639.2004.tb00500.x
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