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  1. Article

    Open Access

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

    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 a...

    Sara E. Mole, Angela Schulz, Eben Badoe… in Orphanet Journal of Rare Diseases (2021)

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