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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Gepubliceerd in:Lancet Child Adolesc Health
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2018
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Online toegang: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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