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Juvenile neuronal ceroid lipofuscinosis (Batten disease): current insights

The present review is focused on juvenile neuronal ceroid lipofuscinosis (JNCL; Batten disease) due to a mutation in CLN3. Functional vision impairment occurring around 5–6 years of age is the first symptom in more than 80% of patients. Approximately 2 years later (though sometimes simultaneously),...

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Podrobná bibliografie
Vydáno v:Degener Neurol Neuromuscul Dis
Hlavní autor: Ostergaard, John R
Médium: Artigo
Jazyk:Inglês
Vydáno: Dove Medical Press 2016
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6053093/
https://ncbi.nlm.nih.gov/pubmed/30050370
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/DNND.S111967
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