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

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 diagnosis....

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Detalles Bibliográficos
Autores principales: Mole, Sara E., Schulz, Angela, Badoe, Eben, Berkovic, Samuel F., de Los Reyes, Emily C., Dulz, Simon, Gissen, Paul, Guelbert, Norberto, Lourenco, Charles M., Mason, Heather L., Mink, Jonathan W., Murphy, Noreen, Nickel, Miriam, Olaya, Joffre E., Scarpa, Maurizio, Scheffer, Ingrid E., Simonati, Alessandro, Specchio, Nicola, Von Löbbecke, Ina, Wang, Raymond Y., Williams, Ruth E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8059011/
https://www.ncbi.nlm.nih.gov/pubmed/33882967
http://dx.doi.org/10.1186/s13023-021-01813-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8059011/
https://www.ncbi.nlm.nih.gov/pubmed/33882967
http://dx.doi.org/10.1186/s13023-021-01813-5

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