✦ LIBER ✦

Exclusion of late infantile neuronal ceroid lipofuscinosis (LINCL) in a fetus by assay of tripeptidyl peptidase I in chorionic villi

✍ Scribed by Elisabeth P. Young; Bryan G. Winchester; W. Peter Logan; Ruth B. Wheeler; Brian D. Lake

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 52 KB
Volume: 20
Category: Article
ISSN: 0197-3851
DOI: 10.1002/(sici)1097-0223(200004)20:4<337::aid-pd811>3.0.co;2-#

No coin nor oath required. For personal study only.

✦ Synopsis

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 ®rst pregnancy at risk for LINCL to be monitored by enzyme assay. No morphological abnormalities were detected.

📜 SIMILAR VOLUMES

First-trimester diagnosis of late-infant

First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis

✍ W. J. Kleijer; O. P. van Diggelen; J. L. M. Keulemans; M. Losekoot; V. H. Garrit 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 53 KB 👁 2 views

Diagnosis of late-infantile neuronal cer

Diagnosis of late-infantile neuronal ceroid lipofuscinosis: A new sensitive method to assay lysosomal pepstatin-insensitive proteinase activity in human and animal specimens by capillary electrophoresis

✍ Simona Viglio; Elaine Marchi; Krystyna Wisniewski; Begõna Casado; Giuseppe Cetta 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 114 KB 👁 2 views

## Diagnosis of late-infantile neuronal ceroid lipofuscinosis: A new sensitive method to assay lysosomal pepstatin-insensitive proteinase activity in human and animal specimens by capillary electrophoresis Batten disease, or human late-infantile neuronal ceroid lipofuscinosis (LINCL) is a familiar