Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

Abstract Background CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2) is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of tripeptidyl peptidase 1 (TPP1). Lack of disease awareness and the non-specificity of presenting symptoms often leads to delayed di...

Full description

Bibliographic Details
Main Authors: Sara E. Mole, Angela Schulz, Eben Badoe, Samuel F. Berkovic, Emily C. de Los Reyes, Simon Dulz, Paul Gissen, Norberto Guelbert, Charles M. Lourenco, Heather L. Mason, Jonathan W. Mink, Noreen Murphy, Miriam Nickel, Joffre E. Olaya, Maurizio Scarpa, Ingrid E. Scheffer, Alessandro Simonati, Nicola Specchio, Ina Von Löbbecke, Raymond Y. Wang, Ruth E. Williams
Format: Article
Language:English
Published: BMC 2021-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Expert mapping
Guideline development program
CLN2
Batten
Neurodegenerative disorder
Key Opinion Leader
Online Access:https://doi.org/10.1186/s13023-021-01813-5

Internet

https://doi.org/10.1186/s13023-021-01813-5

Similar Items