The study aimed to diagnose type 1 and 2 of neuronal ceroid lipofuscinoses (NCLs) using leukocytes dried blood spot samples. A hundred subjects divided equally patient control groups matching age sex were included. group was subclassified into two subgroups according age. Measurement palmitoyl protein thioesterase1 (PPT1) tripeptidyl peptidase1 (TPP1) enzymes conducted in both Chitotriosidase e...

Background and objective: Bone involvement occurs in 75% of patients with Gaucher disease (GD), comprises structural changes, debilitating pain, bone density abnormalities. Osteoporosis is a silent manifestation GD until pathologic fracture occurs. Thus, early diagnosis crucial for identifying high-risk order to prevent irreversible complications. Methods: Thirty-three were assessed prospective...