{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T20:26:44Z","timestamp":1790368004795,"version":"4.1.0"},"reference-count":45,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2017,5,15]],"date-time":"2017-05-15T00:00:00Z","timestamp":1494806400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Rapid Comm Mass Spectrometry"],"published-print":{"date-parts":[[2017,6,15]]},"abstract":"<jats:sec>\n                    <jats:title>Rationale<\/jats:title>\n                    <jats:p>The first step in the diagnosis of oligosaccharidoses is to evidence abnormal oligosaccharides excreted in urine, usually performed by the poorly sensitive but efficient thin layer chromatography (TLC) method. Developing a tandem mass spectrometry (MS\/MS) technique could be of great interest to replace TLC.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Abnormal underivatized oligosaccharides have been recently studied using matrix\u2010assisted laser desorption\/ionization time\u2010of\u2010flight mass spectrometry, allowing the unambiguous identification of oligosaccharidoses. Based on this previous work, we developed an advantageous and efficient liquid chromatography (LC)\/MS\/MS method using a more common triple quadrupole tandem mass spectrometer for oligosaccharides analysis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Oligosaccharidoses (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a097) and control (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a0240) urine samples were analysed. A specific pattern was obtained for each oligosaccharidosis using this method. In urine, it allows not only the identification of all the oligosaccharidoses previously identified by TLC (fucosidosis, alphamannosidosis, aspartylglucosaminuria, GM1 gangliosidosis, sialidosis, galactosialidosis and Schindler disease), but also extends the field of diagnosis to mucolipidosis type II, Sandhoff disease, and\n                      <jats:italic>\u03b2<\/jats:italic>\n                      \u2010mannosidosis. The same technique was applied to 16 amniotic fluid supernatants from oligosaccharidosis\u2010affected foetuses (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a016) compared with 37 unaffected. All the affected foetuses could be clearly identified: sialidosis (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a03), galactosialidosis (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a04), aspartylglucosaminuria (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a01), mucolipidosis type II (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a04) or GM1 gangliosidosis (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a04). This technique can be applied to early prenatal diagnosis as well as to the oligosaccharidosis screening in the case of non\u2010immune\n                      <jats:italic>hydrops fetalis<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The method is quick and easy to run, with an LC analysis time of 13\u00a0min per sample. The quantitative validation could not be obtained in the absence of a specific standard and of a labelled internal standard for each compound. Even if this LC\/MS\/MS method is only qualitative, it is very specific and much more sensitive than TLC. It allows the urinary screening of oligosaccharidoses, even mild or late\u2010onset forms, and the screening of antenatal forms in amniotic fluid. Copyright \u00a9 2017 John Wiley &amp; Sons, Ltd.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/rcm.7860","type":"journal-article","created":{"date-parts":[[2017,3,31]],"date-time":"2017-03-31T02:25:40Z","timestamp":1490927140000},"page":"951-963","source":"Crossref","is-referenced-by-count":27,"title":["Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses"],"prefix":"10.1002","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2341-6514","authenticated-orcid":false,"given":"Monique","family":"Piraud","sequence":"first","affiliation":[{"name":"Service de Biochimie et Biologie Mol\u00e9culaire Grand Est, UM Pathologies M\u00e9taboliques, Erythrocytaires et D\u00e9pistage P\u00e9rinatal, Centre de Biologie et de Pathologie Est Hospices Civils de Lyon  France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magali","family":"Pettazzoni","sequence":"additional","affiliation":[{"name":"Service de Biochimie et Biologie Mol\u00e9culaire Grand Est, UM Pathologies M\u00e9taboliques, Erythrocytaires et D\u00e9pistage P\u00e9rinatal, Centre de Biologie et de Pathologie Est Hospices Civils de Lyon  France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise","family":"Menegaut","sequence":"additional","affiliation":[{"name":"Service de Biochimie et Biologie Mol\u00e9culaire Grand Est, UM Pathologies M\u00e9taboliques, Erythrocytaires et D\u00e9pistage P\u00e9rinatal, Centre de Biologie et de Pathologie Est Hospices Civils de Lyon  France"},{"name":"Laboratoire de Biochimie M\u00e9dicale Centre Hospitalo\u2010Universitaire Fran\u00e7ois Mitterrand  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Caillaud","sequence":"additional","affiliation":[{"name":"Laboratoire de Biochimie M\u00e9tabolomique et Prot\u00e9omique H\u00f4pital Universitaire Necker\u2010Enfants Malades  Assistance Publique\u2010H\u00f4pitaux de Paris, France ; Unit\u00e9 INSERM 1151, Universit\u00e9 Paris Descartes Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yann","family":"Nadjar","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Neurologie, H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e9re Assistance Publique des H\u00f4pitaux de Paris  France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Vianey\u2010Saban","sequence":"additional","affiliation":[{"name":"Service de Biochimie et Biologie Mol\u00e9culaire Grand Est, UM Pathologies M\u00e9taboliques, Erythrocytaires et D\u00e9pistage P\u00e9rinatal, Centre de Biologie et de Pathologie Est Hospices Civils de Lyon  France"},{"name":"Unit\u00e9 INSERM U1060, Laboratoire CarMeN Universit\u00e9 Lyon\u20101  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roseline","family":"Froissart","sequence":"additional","affiliation":[{"name":"Service de Biochimie et Biologie Mol\u00e9culaire Grand Est, UM Pathologies M\u00e9taboliques, Erythrocytaires et D\u00e9pistage P\u00e9rinatal, Centre de Biologie et de Pathologie Est Hospices Civils de Lyon  France"},{"name":"UMR 5305 CNRS\/UCBL  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,5,15]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/9781118514672.ch14"},{"key":"e_1_2_7_3_1","first-page":"3509","volume-title":"The Metabolic and Molecular Bases of Inherited Disorders","author":"Thomas G. 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