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Sialidoses.
Franceschetti S, Canafoglia L. Franceschetti S, et al. Epileptic Disord. 2016 Sep 1;18(S2):89-93. doi: 10.1684/epd.2016.0845. Epileptic Disord. 2016. PMID: 27621198 Review.
Sialidoses are autosomal recessive disorders caused by NEU1 gene mutations and are classified on the basis of their phenotype and onset age. Sialidosis type II, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, …
Sialidoses are autosomal recessive disorders caused by NEU1 gene mutations and are classified on the basis of their phenotype and onset age. …
Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1.
Han X, Wu S, Wang M, Li H, Huang Y, Sui R. Han X, et al. Mol Genet Genomic Med. 2020 Aug;8(8):e1316. doi: 10.1002/mgg3.1316. Epub 2020 May 26. Mol Genet Genomic Med. 2020. PMID: 32453490 Free PMC article.
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 mainland Chinese patient …
BACKGROUND: Sialidosis type 1 is a rare inherited disorder with a high disability. No genetically confirmed mainland Chinese p …
Clinical and genetic characteristics of type I sialidosis patients in mainland China.
Lv RJ, Li TR, Zhang YD, Shao XQ, Wang Q, Jin LR. Lv RJ, et al. Ann Clin Transl Neurol. 2020 Jun;7(6):911-923. doi: 10.1002/acn3.51058. Epub 2020 May 29. Ann Clin Transl Neurol. 2020. PMID: 32472645 Free PMC article.
OBJECTIVE: Type I sialidosis (ST-1) is a rare autosomal recessive inherited disorder. ...The incidence of visual impairment was lower in patients from other Asian regions than in patients from mainland China and Taiwan (28.6% vs. 81.8%-100%). Cherry-red
OBJECTIVE: Type I sialidosis (ST-1) is a rare autosomal recessive inherited disorder. ...The incidence of visual impairment wa …
Diagnostics and Therapy of Human Diseases - Focus on Sialidases.
Karagodin VP, Sukhorukov VN, Myasoedova VA, Grechko AV, Orekhov AN. Karagodin VP, et al. Curr Pharm Des. 2018;24(24):2870-2875. doi: 10.2174/1381612824666180910125051. Curr Pharm Des. 2018. PMID: 30198428 Review.
In vitro studies suggest that some sialidase inhibitors might be useful therapeutics for treating sialidosis, cancer, infections, immune diseases, atherosclerosis and other pathologies. ...
In vitro studies suggest that some sialidase inhibitors might be useful therapeutics for treating sialidosis, cancer, infections, imm …
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.
Caciotti A, Melani F, Tonin R, Cellai L, Catarzi S, Procopio E, Chilleri C, Mavridou I, Michelakakis H, Fioravanti A, d'Azzo A, Guerrini R, Morrone A. Caciotti A, et al. Mol Genet Metab. 2020 Feb;129(2):47-58. doi: 10.1016/j.ymgme.2019.09.005. Epub 2019 Oct 31. Mol Genet Metab. 2020. PMID: 31711734 Review.
The diagnosis is more challenging in the normosomatic type I forms, whose clinical findings at onset include ocular defects, ataxia and generalized myoclonus. ...We also review available clinical reports of patients with sialidosis type I, with the aim …
The diagnosis is more challenging in the normosomatic type I forms, whose clinical findings at onset include ocular defects, ataxia a …
Sialidosis Type 1 Without Cherry-Red Spot.
Bou Ghannam AS, Mehner LC, Pelak VS. Bou Ghannam AS, et al. J Neuroophthalmol. 2019 Sep;39(3):388-390. doi: 10.1097/WNO.0000000000000773. J Neuroophthalmol. 2019. PMID: 31107347 No abstract available.
Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 gene.
Fan SP, Lee NC, Lin CH. Fan SP, et al. J Formos Med Assoc. 2020 Jan;119(1 Pt 3):406-412. doi: 10.1016/j.jfma.2019.07.017. Epub 2019 Jul 29. J Formos Med Assoc. 2020. PMID: 31371146 Free article. Review.
BACKGROUND/PURPOSE: Type 1 sialidosis is a rare autosomal recessive lysosomal storage disease caused by Neuraminidase 1 (NEU1) gene mutations. ...CONCLUSION: Our findings suggest a distinct phenotype of infrequent cherry-red spots and abnormal evoked p …
BACKGROUND/PURPOSE: Type 1 sialidosis is a rare autosomal recessive lysosomal storage disease caused by Neuraminidase 1 (NEU1) …
Heterozygous structural variation mimicking homozygous missense mutations in NEU1 associated with presenting clinical signs in eyes alone.
Li X, Zhang Q. Li X, et al. Ophthalmic Genet. 2020 Jun;41(3):279-283. doi: 10.1080/13816810.2020.1747085. Epub 2020 Apr 9. Ophthalmic Genet. 2020. PMID: 32270733
INTRODUCTION: Biallelic mutations in neuraminidase 1 (NEU1) are associated with cherry-red spots. Whole genome sequencing contributes to eliminating pseudo-homozygous mutations when large-scale deletion of one allele in NEU1 and other genes occurs. PATIENTS AND METH …
INTRODUCTION: Biallelic mutations in neuraminidase 1 (NEU1) are associated with cherry-red spots. Whole genome sequencing cont …
Bergmeister's papilla in a young patient with type 1 sialidosis: case report.
Rossi S, Gesualdo C, Tartaglione A, Bilo L, Coppola A, Simonelli F. Rossi S, et al. BMC Ophthalmol. 2020 Aug 31;20(1):356. doi: 10.1186/s12886-020-01628-1. BMC Ophthalmol. 2020. PMID: 32867703 Free PMC article.
A typical aspect of sialidosis is the finding of a macular cherry-red spot on ocular fundus examination. ...The patient was suffering from myoclonic epilepsy with hypotonia and severe motor disability. Fundoscopic examination showed a typical macular …
A typical aspect of sialidosis is the finding of a macular cherry-red spot on ocular fundus examination. ...The …
Generation of human induced pluripotent stem cells (hIPSCs) from sialidosis types I and II patients with pathogenic neuraminidase 1 mutations.
Han MJ, Annunziata I, Weesner J, Campos Y, Salie M, O'Reilly C, d'Azzo A. Han MJ, et al. Stem Cell Res. 2020 Jul;46:101836. doi: 10.1016/j.scr.2020.101836. Epub 2020 May 6. Stem Cell Res. 2020. PMID: 32485644 Free PMC article.
Sialidosis is an autosomal recessive lysosomal storage disease, belonging to the glycoproteinoses. The disease is caused by deficiency of the sialic acid-cleaving enzyme, sialidase 1 or neuraminidase 1 (NEU1). Patients with sialidosis are classified based on the age
Sialidosis is an autosomal recessive lysosomal storage disease, belonging to the glycoproteinoses. The disease is caused by deficienc
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