Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series

BACKGROUND: The classic phenotype of CLN2 disease (neuronal ceroid lipofuscinosis type 2) typically manifests between ages 2 and 4 years with a predictable clinical course marked by epilepsy, language developmental delay, and rapid psychomotor decline. Atypical phenotypes exhibit variable time of on...

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Pubblicato in:J Child Neurol
Autori principali: Wibbeler, Eva, Wang, Raymond, Reyes, Emily de los, Specchio, Nicola, Gissen, Paul, Guelbert, Norberto, Nickel, Miriam, Schwering, Christoph, Lehwald, Lenora, Trivisano, Marina, Lee, Laura, Amato, Gianni, Cohen-Pfeffer, Jessica, Shediac, Renée, Leal-Pardinas, Fernanda, Schulz, Angela
Natura: Artigo
Lingua:Inglês
Pubblicazione: SAGE Publications 2020
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Original Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8027928/
https://ncbi.nlm.nih.gov/pubmed/33356800
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0883073820977997
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