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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Dades bibliogràfiques
Publicat a:J Neurol
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2020
Matèries:
Original Communication
Accés en línia: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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