Associated Papers
Phenotypic/Genotypic Profile of Children with Neuronal Ceroid Lipofuscinosis in Southern Brazil.
Santos BV et al.
Neuropediatrics, 2024
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.
Martínez-Rubio D et al.
International Journal of Molecular Sciences, 2023
Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.
Rus CM et al.
Orphanet Journal of Rare Diseases, 2022
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
Barbosa-Gouveia S et al.
Genes, 2021
34440436 (PubMed )
Supplement: genes-12-01262-s001.zip › genes-1321555-supplementary.pdf
Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.
Sharp JD et al.
Human Mutation, 2003
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