Sialidosis type I presenting with a novel mutation and advanced neuroimaging features
Sialidosis is a rare lysosomal storage disease caused by neuraminidase gene (NEU1)
mutation and a deficiency of the enzyme neuraminidase. The aim of this study was to …
mutation and a deficiency of the enzyme neuraminidase. The aim of this study was to …
[HTML][HTML] Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 gene
SP Fan, NC Lee, CH Lin - Journal of the Formosan Medical Association, 2020 - Elsevier
Background/purpose Type 1 sialidosis is a rare autosomal recessive lysosomal storage
disease caused by Neuraminidase 1 (NEU1) gene mutations. We report a type 1 sialidosis …
disease caused by Neuraminidase 1 (NEU1) gene mutations. We report a type 1 sialidosis …
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients
A Caciotti, M Di Rocco, M Filocamo, S Grossi… - Journal of …, 2009 - Springer
Sialidosis is a lysosomal storage disease caused by the deficiency of alpha-N-acetyl
neuraminidase-1 (NEU1). Sialidosis is classified into two main clinical variants: Type I, the …
neuraminidase-1 (NEU1). Sialidosis is classified into two main clinical variants: Type I, the …
Type 1 Sialidosis Patient With a Novel Deletion Mutation in the NEU1 Gene: Case Report and Literature Review
Recent advances in next-generation sequencing technologies have uncovered the genetic
backgrounds of various diseases. Type 1 sialidosis (OMIM# 256550) is a rare autosomal …
backgrounds of various diseases. Type 1 sialidosis (OMIM# 256550) is a rare autosomal …
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: an overview
A Caciotti, F Melani, R Tonin, L Cellai, S Catarzi… - Molecular Genetics and …, 2020 - Elsevier
Lysosomal storage diseases (LSDs) are rare to extremely rare monogenic disorders. Their
incidence, however, has probably been underestimated owing to their complex clinical …
incidence, however, has probably been underestimated owing to their complex clinical …
[HTML][HTML] Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement
AN Mohammad, KA Bruno, S Hines, PS Atwal - Molecular genetics and …, 2018 - Elsevier
Sialidosis is an autosomal recessive lysosomal storage disease caused by pathogenic
variants in NEU1 which encodes lysosomal sialidase (neuraminidase 1). Lysosomal …
variants in NEU1 which encodes lysosomal sialidase (neuraminidase 1). Lysosomal …
First report of two Taiwanese siblings with sialidosis type I: a 10-year follow-up study
We report the clinical features, electrophysiological findings and genetic characteristics of
the first two Taiwanese siblings ever reported with sialidosis type I. We also provide a 10 …
the first two Taiwanese siblings ever reported with sialidosis type I. We also provide a 10 …
Sialidosis type I: ophthalmological findings
I Sobral, M da Luz Cachulo, J Figueira, R Silva - Case Reports, 2014 - casereports.bmj.com
Sialidosis is a lysosomal storage disease caused by deficit of neuraminidase. It is an
autosomal recessive disease, heterogeneous in its onset, presentation and prognosis. We …
autosomal recessive disease, heterogeneous in its onset, presentation and prognosis. We …
Cortical damage in the posterior visual pathway in patients with sialidosis type 1
CS Lu, SH Ng, SC Lai, LY Kao, L Liu, WY Lin… - Brain imaging and …, 2017 - Springer
In order to identify the cortical changes in patients with Sialidosis type 1, diffusion tensor
imaging and resting state fMRI were acquired from 11 patients and 11 sex/age matched …
imaging and resting state fMRI were acquired from 11 patients and 11 sex/age matched …
[HTML][HTML] Optical coherence tomography features in a case of Type I sialidosis
IH Wang, TY Lin, ST Kao - Taiwan Journal of Ophthalmology, 2017 - journals.lww.com
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 …
years. Slit lamp examination showed a punctate cataract and funduscopic examination …