Current state of clinical and morphological features in human NCL.

Abstract excerpt

The neuronal ceroid lipofuscinoses (NCL) are a large group of autosomal recessive lysosomal storage disorders with both enzymatic deficiency and structural protein dysfunction. Previously, diagnosis of NCL was based on age at onset and clinicopathological (C-P) findings described 4 forms, classified as infantile (INCL) (2), late-infantile (LINCL) (5), juvenile (JNCL) (6), and adult (ANCL) (12). Most patients with...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Age of Onset
• Share to Child
• Share to Child, Preschool