Diagnosis of late-infantile neuronal ceroid lipofuscinosis using dried blood spot-based assay for TPPI enzyme activity: TPPI diagnostic assay from DBS

Autor: Gavin, Maureen, Khatoon, Sabiha, Marchi, Elaine J., Mevs, Clifford A., Bolton, David C., Velinov, Milen T., Junaid, Mohammed A.
Zdroj: In Clinica Chimica Acta August 2020 507:62-68
Databáze: ScienceDirect