Exclusion of late infantile neuronal ceroid lipofuscinosis (LINCL) in a fetus by assay of tripeptidyl peptidase I in chorionic villi
Autor: | E P, Young, B G, Winchester, W, Peter Logan, R B, Wheeler, B D, Lake |
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Rok vydání: | 2000 |
Předmět: | |
Zdroj: | Prenatal diagnosis. 20(4) |
ISSN: | 0197-3851 |
Popis: | 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 first pregnancy at risk for LINCL to be monitored by enzyme assay. No morphological abnormalities were detected. |
Databáze: | OpenAIRE |
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