title: Exclusion of late infantile neuronal ceroid lipofuscinosis (LINCL) in a fetus by assay of tripeptidyl peptidase I in chorionic villi.
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.
authors.affiliation: Chemical Pathology, Great Ormond Street Hospital NHS Trust, Great Ormond Street, London WC1N 3JH, UK.
authors.forename: E P
authors.initials: EP
authors.lastname: Young
authors.forename: B G
authors.initials: BG
authors.lastname: Winchester
authors.forename: W
authors.initials: W
authors.lastname: Peter Logan
authors.forename: R B
authors.initials: RB
authors.lastname: Wheeler
authors.forename: B D
authors.initials: BD
authors.lastname: Lake
mesh_terms: D000626:Aminopeptidases; D002675:Child, Preschool; D002824:Chorionic Villi / Q000201:enzymology*; D015193:Chorionic Villi Sampling; D020732:Cytogenetic Analysis; D004252:DNA Mutational Analysis; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; D010450:Endopeptidases / Q000032:analysis* / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000201:enzymology; D011247:Pregnancy; D057057:Serine Proteases; D000091346:Tripeptidyl-Peptidase 1
chemical_list: D000091346:Tripeptidyl-Peptidase 1; D010450:Endopeptidases; D057057:Serine Proteases; D000626:Aminopeptidases; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; C000717267:TPP1 protein, human