منابع مشابه
Ovine neuronal ceroid lipofuscinosis: a large animal model syntenic with the human neuronal ceroid lipofuscinosis variant CLN6.
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited degenerative neurological diseases affecting children. A number of non-allelic variants have been identified within the human population and the genes for some of these have recently been identified. The underlying mechanism for the neuropathology remains an enigma; however, pioneering studies with the naturally occurring ovine ...
متن کاملWith Neuronal Ceroid Lipofuscinosis
An 11-year-old girl with juvenile neuronal ceroid lipofuscinosis developed acute pancreatitis secondary to valproic acid treatment, which resolved after discontinuation of the medication and conservative treatment. To my knowledge, this is the first reported case of neuronal ceroid lipofuscinosis with valproate-associated pancreatitis. Children with neuronal ceroid lipofuscinosis may be suscept...
متن کاملNeuronal ceroid-lipofuscinosis in older dachshunds.
A lysosomal storage disease with accumulation of periodic acid-Schiff- and Sudan black-positive autofluorescent granules in neurons occurred in one 5 1/2- and one 7-year-old dachshund. Ultrastructurally, the storage material consisted of membranous material arranged in stacks and fingerprint patterns. The disease was defined as ceroid-lipofuscinosis, and resembled a previously reported case in ...
متن کاملNeuronal ceroid-lipofuscinosis in a mature dog.
The neuronal ceroid-lipofuscinoses are a group of diseases characterized by progressive accumulation of autofluorescent lipopigments within neurons with associated neuronal damage." Variations of these diseases occur which include accumulations of lipopigments in viscera. The diseases long have been recognized in man where earlier studies of the pathogenesis suggested an increased rate of perox...
متن کاملNeuronal ceroid lipofuscinosis: a clinicopathological study
We report the clinical, electrophysiological, radiological and morphological features in a series of 12 patients of histopathologically confirmed cases (infantile, juvenile and adult onset) of neuronal ceroid lipofuscinosis (NCL) observed from 1979 to 1998 at National Institute of Mental Health & Neurosciences (NIMHANS), Bangalore (South India). The commonest type of NCL was juvenile (n = 8, 67...
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ژورنال
عنوان ژورنال: Journal of Biological Chemistry
سال: 1989
ISSN: 0021-9258
DOI: 10.1016/s0021-9258(18)83610-9