Neuronal ceroid lipofuscinosis type 2: an Australian case series

AIM: Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare neurodegenerative disorder presenting in children aged 2–4 years with seizures and loss of motor and language skills, followed by blindness and death in late childhood. Initial presenting features are similar to a ran...

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Detaylı Bibliyografya
Yayımlandı:J Paediatr Child Health
Asıl Yazarlar: Johnson, Alexandra M, Mandelstam, Simone, Andrews, Ian, Boysen, Katja, Yaplito‐Lee, Joy, Fietz, Michael, Nagarajan, Lakshmi, Rodriguez‐Casero, Victoria, Ryan, Monique M, Smith, Nicholas, Scheffer, Ingrid E, Ellaway, Carolyn
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley & Sons Australia, Ltd. 2020
Konular:
Original Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7497200/
https://ncbi.nlm.nih.gov/pubmed/32329550
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jpc.14890
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