Oligosaccharides in urine of patients with glycoprotein storage diseases: I. Rapid detection by thin-layer chromatography
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Free sialic acid storage disorder: Progress and promise
2021, Neuroscience LettersCitation Excerpt :The FSASD diagnosis was historically confirmed by demonstrating lysosomal (rather than cytoplasmic) localization of elevated free sialic acid in cultured cells [3,18,50], but is now mostly confirmed by genetic testing detecting bi-allelic SLC17A5 mutations [1–3,9,11]. Although well-established analytic methods to determine free and/or bound sialic acid exist, including colorimetric and fluorometric analysis (thiobarbituric acid assay) [51], 1H-NMR spectroscopy [52], thin-layer chromatography [53,54], high performance anion-exchange chromatography with pulsed amperometric detection (HPAE-PAD) [55], and liquid chromatography mass spectrometry (LC/MS) [53,56], there is a lack of routine screening for urinary free sialic acid. This contributes to the considerable diagnostic delay for individuals with FSASD [11].
Multigene 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
2017, Molecular Genetics and Metabolism ReportsCitation Excerpt :Diagnosis was eventually established through multigene panel next generation sequencing of genes associated to lysosomal storage diseases. Thin-layer-chromatography was performed as previously described [1,5]. Brief, spontaneous urines were normalized to creatinine and applied to silicagel 60 plate (10 cm × 20 cm; Merck KGaA, Darmstadt, Germany).
Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population
2006, Molecular Genetics and MetabolismLysosomal storage disorders affecting the heart: a review
2019, Cardiovascular PathologyCitation Excerpt :This method assesses the amount of hexuronic acid contained in the extracted GAGs and can give false-negative results when the accumulated GAG is keratin sulfate, which contains galactose instead of hexuronic acid; in this case, the diagnosis of Morquio disease may be missed [57]. The development of tandem mass spectrometry for the identification and quantification of lysosomal substrates and metabolites has been a significant advance in the diagnosis of LSDs [59,60]. In almost all cases, glycosphingolipids and oligosaccharides analyzed by this method have been shown to differ significantly in controls and affected patients [57,59].
Free sialic acid storage disease
2023, Frontiers in Lysosomal Storage Diseases (LSD) TreatmentsAnalysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders
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