Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1316
Abstract: Abstract Background Sialidosis type 1 is a rare inherited disorder with a high disability. No genetically confirmed mainland Chinese patient with sialidosis type 1 has been reported. This study evaluated the phenotypes and genotypes of… read more here.
Keywords: sialidosis; patients sialidosis; mainland chinese; sialidosis type ... See more keywords
Anesthetic management for mastectomy and total hysterectomy in a 49-year-old woman with type 1 sialidosis: a case report
Sign Up to like & getrecommendations! Published in 2021 at "JA Clinical Reports"
DOI: 10.1186/s40981-021-00425-z
Abstract: Background Sialidosis is an autosomal recessive glycoprotein storage disorder, caused by neuraminidase deficiency which leads to abnormal intracellular accumulation and urinary excretion of sialylated oligosaccharides, resulting in various morphological and functional disorders. Only a few… read more here.
Keywords: sialidosis; old woman; woman type; sialidosis case ... See more keywords
Optical coherence tomography features in a case of Type I sialidosis
Sign Up to like & getrecommendations! Published in 2017 at "Taiwan Journal of Ophthalmology"
DOI: 10.4103/tjo.tjo_53_17
Abstract: A 15-year-old boy presented with progressive myoclonic epilepsy and unbalance gaits for 4 years. Slit lamp examination showed a punctate cataract and funduscopic examination revealed bilateral macular cherry-red spots. Macular scan of spectral domain optical… read more here.
Keywords: coherence tomography; optical coherence; sialidosis; type sialidosis ... See more keywords