about
Sialic acid storage diseaseSpecific inactivation of lysosomal glycosidases in living fibroblasts by the corresponding glycosylmethyl-p-nitrophenyltriazenesTurnover of beta-galactosidase in fibroblasts from patients with genetically different types of beta-galactosidase deficiencyIn silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localizationMultigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings.Lysosomal NEU1 deficiency affects amyloid precursor protein levels and amyloid-β secretion via deregulated lysosomal exocytosisAdult onset familial cherry-red spot myoclonus.Vacuolization and alterations of lysosomal membrane proteins in cochlear marginal cells contribute to hearing loss in neuraminidase 1-deficient miceGenetic analysis of liver neuraminidase isozymes in Rattus norvegicus: independent control of NEU-1 and NEU-2 phenotypes.Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. Lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblasts.Infantile sialidosis: a phenocopy of type 1 GM1 gangliosidosis distinguished by genetic complementation and urinary oligosaccharides.Sialidosis and galactosialidosis: chromosomal assignment of two genes associated with neuraminidase-deficiency disorders.The lesions of an ovine lysosomal storage disease. Initial characterization.Analysis of urinary oligosaccharides in lysosomal storage disorders by capillary high-performance anion-exchange chromatography-mass spectrometry.Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.Pathogenesis, Emerging therapeutic targets and Treatment in Sialidosis.Sialidosis type 1: cherry red spot-myoclonus syndrome with sialidase deficiency and altered electrophoretic mobilities of some enzymes known to be glycoproteins. 1. Clinical findings.Conjunctival biopsy in adult form galactosialidosis.Active influenza virus neuraminidase is expressed in monkey cells from cDNA cloned in simian virus 40 vectors.Cherry-red spot myoclonus syndrome and alpha-neuraminidase deficiency: neurophysiological, pharmacological and biochemical study in an adultThe map of chromosome 20.Neuraminidase deficiency: case report and review of the phenotype.Galactosialidosis: molecular heterogeneity among distinct clinical phenotypes.Correction of I-cell defect by hybridization with lysosomal enzyme deficient human fibroblasts.Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion.Neuraminidase-1 mediates skeletal muscle regeneration.Defective lysosomal release of glycoprotein-derived sialic acid in fibroblasts from patients with sialic acid storage diseasePhotolabelling of Salmonella typhimurium LT2 sialidase. Identification of a peptide with a predicted structural similarity to the active sites of influenza-virus sialidases.Cellular localization of neuraminidases in cultured human fibroblasts.Defective NEU1 causes sialidosisAngiokeratoma corporis diffusum in fucosidosis.
P2860
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P2860
description
1979 nî lūn-bûn
@nan
1979 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1979 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1979年の論文
@ja
1979年論文
@yue
1979年論文
@zh-hant
1979年論文
@zh-hk
1979年論文
@zh-mo
1979年論文
@zh-tw
1979年论文
@wuu
name
Sialidosis: a review of human neuraminidase deficiency.
@ast
Sialidosis: a review of human neuraminidase deficiency.
@en
type
label
Sialidosis: a review of human neuraminidase deficiency.
@ast
Sialidosis: a review of human neuraminidase deficiency.
@en
prefLabel
Sialidosis: a review of human neuraminidase deficiency.
@ast
Sialidosis: a review of human neuraminidase deficiency.
@en
P2860
P1476
Sialidosis: a review of human neuraminidase deficiency.
@en
P2093
P2860
P407
P577
1979-01-01T00:00:00Z