Retinal axonal degeneration in Niemann–Pick type C disease

OBJECTIVE: Niemann–Pick disease type C1 (NPC1) is a rare autosomal-recessive lysosomal storage disorder presenting with a broad clinical spectrum ranging from a severe infantile-onset neurovisceral disorder to late-onset neurodegenerative disease. Optical coherence tomography (OCT) is established to...

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Dettagli Bibliografici
Pubblicato in:J Neurol
Autori principali: Havla, Joachim, Moser, Marlene, Sztatecsny, Clara, Lotz-Havla, Amelie S., Maier, Esther M., Hizli, Baccara, Schinner, Regina, Kümpfel, Tania, Strupp, Michael, Bremova-Ertl, Tatiana, Schneider, Susanne A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer Berlin Heidelberg 2020
Soggetti:
Original Communication
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7320959/
https://ncbi.nlm.nih.gov/pubmed/32222928
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-020-09796-2
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