Article

Guidelines on the Diagnosis, Clinical Assessments, Treatment and Management for CLN2 Disease Patients

2020-10-28

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>: CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2), or Late-Infantile Neuronal Ceroid Lipofuscinosis (LINCL), 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. These guidelines...

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Literature Corpus work: c14d19f7-bc98-50f1-be25-89bc9519c805
DOI: 10.21203/rs.3.rs-96773/v1

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