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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Detalles Bibliográficos
Publicado en:J Paediatr Child Health
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado: John Wiley & Sons Australia, Ltd. 2020
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Original Articles
Acceso en liña: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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