Optical coherence tomography findings in a patient with type 1 sialidosis
Author:
Publisher
Elsevier BV
Subject
Physiology (medical),Neurology (clinical),Neurology,General Medicine,Surgery
Reference13 articles.
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2. Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex;Lukong;J Biol Chem,2001
3. A longitudinal study of Taiwanese sialidosis type 1: an insight into the concept of cherry-red spot myoclonus syndrome;Lai;Eur J Neurol,2009
4. Spectral optical coherence tomography in a patient with type I sialidosis;Michalewska;Med Sci Monitor,2011
5. Prevalence of lysosomal storage disorders;Meikle;JAMA,1999
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1. Optical Coherence Tomography Findings in Cherry-Red Spot: Implications for Understanding Pathophysiology and Visual Prognosis;Journal of Pediatric Ophthalmology & Strabismus;2023-11
2. Multimodal imaging findings in a patient with type I sialidosis with a compound heterozygous mutation in the NEU1 gene;Quantitative Imaging in Medicine and Surgery;2021-09
3. Neurophysiolgical implications in sialidosis type 1: a case report;International Journal of Neuroscience;2020-10-13
4. A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot;British Journal of Ophthalmology;2020-08-04
5. Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients;Brain Sciences;2020-08-01
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