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1
Published in 2018 at "Molecular Genetics and Metabolism"
DOI: 10.1016/j.ymgme.2017.12.251
Abstract: • The proposed staging system is based on clinically meaningful end-points and has excellent construct validity • In this proposed staging system, individuals with CLN3 disease progress through each stage of the disease as a…
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Keywords:
system;
proposed staging;
staging system;
disease ... See more keywords
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2
Published in 2023 at "Epilepsia"
DOI: 10.1111/epi.17616
Abstract: OBJECTIVE To analyse phenotypic features of a cohort of patients with protracted CLN3 disease to improve recognition of the disorder. METHODS We analysed phenotypic data of ten patients from six families with protracted CLN3 disease.…
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Keywords:
recognition;
deletion;
disease;
epileptology ... See more keywords
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2
Published in 2022 at "International Journal of Environmental Research and Public Health"
DOI: 10.3390/ijerph19105895
Abstract: The juvenile variant of Neuronal Ceroid Lipofuscinosis (CLN3 disease/Batten disease) is a rare progressive brain disease in children and young adults, characterized by vision loss, decline in cognitive and motor capacities and epilepsy. Children with…
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Keywords:
emotions children;
children cln3;
behaviour emotions;
disease ... See more keywords