Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study

BACKGROUND: Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease, characterised by rapid psychomotor decline and epilepsy, is caused by deficiency of the lysosomal enzyme tripeptidyl peptidase 1. We aimed to analyse the characteristics and rate of progression of CLN2 disease in an int...

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Detalhes bibliográficos
Publicado no:Lancet Child Adolesc Health
Main Authors: Nickel, Miriam, Simonati, Alessandro, Jacoby, David, Lezius, Susanne, Kilian, Dirk, Van de Graaf, Benjamin, Pagovich, Odelya E, Kosofsky, Barry, Yohay, Kaleb, Downs, Matthew, Slasor, Peter, Aiayi, Temitayo, Crystal, Ronald G, Kohlschütter, Alfried, Sondhi, Dolan, Schulz, Angela
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7516285/
https://ncbi.nlm.nih.gov/pubmed/30119717
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/S2352-4642(18)30179-2
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