This paper is a report on Neuronal Ceroid Lipofuscinosis (NCL) in The Netherlands (synonyms: Batten disease, Jansky-Bielschowsky disease, Batten-Mayou disease, Stock-Spielmeyer-Vogt disease). Discussed are the late infantile type with predominant accumulation of lipofuscin in the form of curvilinear
Genetic Heterogeneity of Neuronal Ceroid Lipofuscinosis in the Netherlands
β Scribed by Peter E.M. Taschner; Patrick F. Franken; Lisette van Berkel; Martijn H. Breuning
- Book ID
- 115639495
- Publisher
- Elsevier Science
- Year
- 1999
- Tongue
- English
- Weight
- 75 KB
- Volume
- 66
- Category
- Article
- ISSN
- 1096-7192
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## Abstract A method has been developed for the complete extraction and fractionation of the autofluorescent lipopigments present in the neuronal tissue of BattenβSpielmeyerβVogt (BSV) patient and normal subject, respectively. The fluorescent lipopigments that were about threeβfold higher in BSV pa
We have found a group of individuals with the late infantile, the early juvenile variant, and juvenile neuronal ceroid-lipofuscinosis (NCL) in Newfoundland, an island with a population of 500,000. In the past 25 yr, we have ascertained 44 cases of NCL in 32 sibships: 32 cases of late infantile NCL (
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