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
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