Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.
Sign Up to like & getrecommendations! Published in 2019 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2019.09.005
Abstract: Lysosomal storage diseases (LSDs) are rare to extremely rare monogenic disorders. Their incidence, however, has probably been underestimated owing to their complex clinical manifestations. Sialidosis is a prototypical LSD inherited as an autosomal recessive trait… read more here.
Keywords: diagnosis; sialidosis normosomatic; type; type sialidosis ... 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