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Neurology of the neuronal ceroid-lipofuscinoses: Late infantile and juvenile types

✍ Scribed by Boustany, Rose-Mary


Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
310 KB
Volume
42
Category
Article
ISSN
0148-7299

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The first prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL Finnish ; CLN5) is reported. The disease belongs to the group of progressive encephalopathies in children with psycho-motor deterioration, visual failure and premature death. Neurons and several extraneural

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The neuronal ceroid lipofuscinoses (NCLs), also referred to as Batten disease, are a group of neurodegenerative disorders characterised by the accumulation of an autofluorescent lipopigment in many cell types. Different NCL types are distinguished according to age of onset, clinical phenotype, ultra