Article

Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) Clinical Findings and Molecular Diagnosis: Costa Rica´s Experience

2021-09-07

Abstract excerpt

<title>Abstract</title> <p>Background: Commonly known as Batten disease, the neuronal ceroid lipofuscinoses (NCLs) are a genetically heterogeneous group of rare pediatric lysosomal storage disorders characterized by the intracellular accumulation of autofluorescent material (known as lipofuscin), progressive neurodegeneration, and neurological symptoms. In 2002, a disease-causing NCL mutation in the CLN6 gene was...

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Literature Corpus work: 849d62f3-9205-5d51-841f-5af872151af9
DOI: 10.21203/rs.3.rs-860956/v1

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