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A clinical and DNA study on patients with Neuronal ceroid lipofuscinosis in Eastern Province, Saudi Arabia
Curr Pediatr Res
Neuronal ceroid lipofuscinoses (NCLs) are a large group of autosomal recessive lysosomal storage disorders. Patients present with distinct clinical features. Confirmation of diagnosis is a challenge and involves complex biochemical, and en-zymatic tests which may not be available locally. The aims of this study were to describe the clinical features and DNA results of patients attend Saad Specialist Hospital, Eastern Province, Saudi Arabia with clinical diagnosis of NCL. Seven children (age 6fatcat:iwryo645lnaetehjgel7dw5cby