A. M. Oller Ramírez

Palmitoyl Protein Thioesterase1 (PPT1) and Tripeptidyl Peptidase-I (TPP-I) are expressed in the human saliva. A reliable and non-invasive source for the diagnosis of infantile (CLN1) and late infantile (CLN2) neuronal ceroid lipofuscinoses.

I. Noher de Halac, R. Kohan, R. D. de Kremer, 2005, Clinical biochemistry.

Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants

G. Uziel, C. Rosano, B. Bembi, 2012, PloS one.