Saccadic Impairments in Patients with the Norrbottnian Form of Gaucher’s Disease Type 3
Author:
Publisher
Frontiers Media SA
Subject
Neurology (clinical),Neurology
Reference17 articles.
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3. Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene;Dahl;Am J Hum Genet,1990
4. Novel hyperkinetic dystonia-like manifestation and neurological disease course of Swedish Gaucher patients;Machaczka;Blood Cells Mol Dis,2016
5. The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher’s disease;Altarescu;J Pediatr,2001
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1. Neurocognitive profile of adults with the Norrbottnian type of Gaucher disease;JIMD Reports;2021-11-21
2. Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease;Orphanet Journal of Rare Diseases;2020-12
3. A comprehensive monocentric ophthalmic study with Gaucher disease type 3 patients: vitreoretinal lesions, retinal atrophy and characterization of abnormal saccades;Orphanet Journal of Rare Diseases;2019-11-14
4. Ophthalmological findings in Gaucher disease;Molecular Genetics and Metabolism;2019-05
5. Ophthalmic manifestations of Gaucher disease: the most common lysosomal storage disorder;British Journal of Ophthalmology;2019-01-05
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