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Pre- and postnatal enzyme analysis for infantile,late infantile and adult neuronal ceroid lipofuscinosis (CLN 1 and CLN2)

✍ Scribed by O.P. Van Diggelen; J.L.M. Keulemans; W.J. Kleijer; S. Thobois; C. Tilikete; Y.V. Voznyi


Book ID
114464920
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
337 KB
Volume
5
Category
Article
ISSN
1090-3798

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✍ B. B. A. de Vries; W. J. Kleijer; J. L. M. Keulemans; Y. V. Voznyi; P. F. Franke πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 163 KB πŸ‘ 3 views

Infantile neuronal ceroid lipofuscinosis (INCL) is a progressive neurodegenerative disorder in childhood which is caused by the deficiency of the lysosomal palmitoyl-protein thioesterase (PPT) encoded by the CLN1 gene. In a pregnancy at risk for INCL, chorionic villi (CV) were studied using a novel