Article

Clinical and genetic characterization of Neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: Identification of 11 novel mutations

2023-02-01

Abstract excerpt

<title>Abstract</title> <p>Neuronal ceroid lipofuscinoses (NCLs) are neurodegenerative lysosomal storage diseases witch considered among the most frequent cause of dementia in childhood worldwide This study aimed to identify the gene variants, molecular etiologies, and clinical features in 23 unrelated Iranian families with NCL. In total, 29 patients with Neuronal ceroid lipofuscinoses (NCLs), diagnosed based on...

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Literature Corpus work: 9c579f26-1520-5b0d-b010-4649222dcf61
DOI: 10.21203/rs.3.rs-2514013/v1

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