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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Bibliografiska uppgifter
I publikationen:Lancet Child Adolesc Health
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2018
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Article
Länkar: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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