A method for the rapid detection of urinary glycopeptides in α-N-acetylgalactosaminidase deficiency and other lysosomal storage diseases
Author:
Publisher
Elsevier BV
Subject
Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine
Reference22 articles.
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3. Urinary oligosaccharide excretion in disorders of glycolipid, glycoprotein and glycogen metabolism;Sewell;Eur J Pediatr,1980
4. Thin-layer chromatography of oligosaccharides in urine as a rapid indication for the diagnosis of lysosomal acid maltase deficiency (Pompe's disease);Blom;Clin Chim Acta,1983
5. Human β-mannosidase deficiency;Wenger;N Engl J Med,1986
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1. Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders;Journal of Inherited Metabolic Disease;2023-02-28
2. Schindler disease: deficient α-N-acetylgalactosaminidase activity;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2020
3. Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses;Rapid Communications in Mass Spectrometry;2017-05-15
4. Application of ion mobility tandem mass spectrometry to compositional and structural analysis of glycopeptides extracted from the urine of a patient diagnosed with Schindler disease;Rapid Communications in Mass Spectrometry;2015-09-25
5. Schindler Disease;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2015
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