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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...
Gardado en:
| Publicado en: | J Paediatr Child Health |
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| Main Authors: | , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
John Wiley & Sons Australia, Ltd.
2020
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| Assuntos: | |
| 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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