Abstract
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.
Copyright 2000 John Wiley & Sons, Ltd.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Aminopeptidases
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Child, Preschool
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Chorionic Villi / enzymology*
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Chorionic Villi Sampling*
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Cytogenetic Analysis
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DNA Mutational Analysis
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Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
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Endopeptidases / analysis*
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Endopeptidases / genetics
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Fatal Outcome
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Female
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Humans
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Neuronal Ceroid-Lipofuscinoses / diagnosis*
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Neuronal Ceroid-Lipofuscinoses / enzymology
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Pregnancy
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Serine Proteases
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Tripeptidyl-Peptidase 1
Substances
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Tripeptidyl-Peptidase 1
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Endopeptidases
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Serine Proteases
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Aminopeptidases
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Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
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TPP1 protein, human