Fundus autofluorescence and optical coherence tomography of a macular cherry-red spot in a case report of sialidosis
Author:
Publisher
Springer Science and Business Media LLC
Subject
Ophthalmology,General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s12886-016-0201-9
Reference9 articles.
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2. Young ID, Young EP, Mossman J, Fielder AR, Moore JR. Neuraminidase deficiency: case report and review of the phenotype. J Med Genet. 1987;24:283–90.
3. Seyrantepe V, Poupetova H, Froissart R, Zabot MT, Maire I, Pshezhetsky AV. Molecular pathology of NEU1 gene in sialidosis. Hum Mutat. 2003;22:343–52.
4. Palmeri S, Villanova M, Malandrini A, van Diqqelen OP, Huijmans JG, Ceuterick C, Rufa A, DeFalco D, Ciacci G, Martin JJ, Guazzi G. Type I sialidosis: a clinical, biochemical and neuroradiological study. Eur Neurol. 2000;43:88–94.
5. Thomas PK, Abrams JD, Swallow D, Stewart G. Sialidosis type 1: cherry red spot-myoclonus syndrome with sialidase deficiency and altered electrophoretic mobilities of some enzymes known to be glycoproteins.1.Clinical findings. J Neurol Neurosurg Pshchiatry. 1979;42:873–80.
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