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Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I

โœ Scribed by David J Vines; Michael J Warburton


Book ID
117110283
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
300 KB
Volume
443
Category
Article
ISSN
0014-5793

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Exclusion of late infantile neuronal cer
โœ Elisabeth P. Young; Bryan G. Winchester; W. Peter Logan; Ruth B. Wheeler; Brian ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 52 KB ๐Ÿ‘ 2 views

We report the exclusion of late infantile neuronal ceroid lipofuscinosis in a fetus by assay of tripeptidyl peptidase I activity and by mutational analysis in chorionic villi. This is the ยฎrst pregnancy at risk for LINCL to be monitored by enzyme assay. No morphological abnormalities were detected.