{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T20:27:05Z","timestamp":1790368025632,"version":"4.1.0"},"reference-count":30,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,2,28]],"date-time":"2023-02-28T00:00:00Z","timestamp":1677542400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Oligosaccharidoses, sphingolipidoses and mucolipidoses are lysosomal storage disorders (LSDs) in which defective breakdown of glycan\u2010side chains of glycosylated proteins and glycolipids leads to the accumulation of incompletely degraded oligosaccharides within lysosomes. In metabolic laboratories, these disorders are commonly diagnosed by thin\u2010layer chromatography (TLC) but more recently also mass spectrometry\u2010based approaches have been published. To expand the possibilities to screen for these diseases, we developed an ultra\u2010high\u2010performance liquid chromatography (UHPLC) with a high\u2010resolution accurate mass (HRAM) mass spectrometry (MS) screening platform, together with an open\u2010source iterative bioinformatics pipeline. This pipeline generates comprehensive biomarker profiles and allows for extensive quality control (QC) monitoring. Using this platform, we were able to identify \u03b1\u2010mannosidosis, \u03b2\u2010mannosidosis, \u03b1\u2010<jats:italic>N<\/jats:italic>\u2010acetylgalactosaminidase deficiency, sialidosis, galactosialidosis, fucosidosis, aspartylglucosaminuria, GM1 gangliosidosis, GM2 gangliosidosis (M. Sandhoff) and mucolipidosis II\/III in patient samples. Aberrant urinary oligosaccharide excretions were also detected for other disorders, including NGLY1 congenital disorder of deglycosylation, sialic acid storage disease, MPS type IV B and GSD II (Pompe disease). For the latter disorder, we identified heptahexose (Hex7), as a potential urinary biomarker, in addition to glucose tetrasaccharide (Glc4), for the diagnosis and monitoring of young onset cases of Pompe disease. Occasionally, so\u2010called \u201cneonate\u201d biomarker profiles were observed in young patients, which were probably due to nutrition. Our UHPLC\/HRAM\u2010MS screening platform can easily be adopted in biochemical laboratories and allows for simple and robust screening and straightforward interpretation of the screening results to detect disorders in which aberrant oligosaccharides accumulate.<\/jats:p>","DOI":"10.1002\/jimd.12597","type":"journal-article","created":{"date-parts":[[2023,2,8]],"date-time":"2023-02-08T14:59:05Z","timestamp":1675868345000},"page":"206-219","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Analysis of urinary oligosaccharide excretion patterns by <scp>UHPLC<\/scp>\/<scp>HRAM<\/scp> mass spectrometry for screening of lysosomal storage disorders"],"prefix":"10.1002","volume":"46","author":[{"given":"Marne C.","family":"Hagemeijer","sequence":"first","affiliation":[{"name":"Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics Erasmus University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeroen C.","family":"van den Bosch","sequence":"additional","affiliation":[{"name":"Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics Erasmus University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michiel","family":"Bongaerts","sequence":"additional","affiliation":[{"name":"Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics Erasmus University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin H.","family":"Jacobs","sequence":"additional","affiliation":[{"name":"Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics Erasmus University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna M. 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