{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,9]],"date-time":"2025-11-09T03:45:49Z","timestamp":1762659949043,"version":"build-2065373602"},"reference-count":26,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2020,8,25]],"date-time":"2020-08-25T00:00:00Z","timestamp":1598313600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene encoding the \u03b1-galactosidase A enzyme. This enzyme cleaves the last sugar unit of glycosphingolipids, including globotriaosylceramide (Gb3), globotriaosylsphingosine (lyso-Gb3), and galabiosylceramide (Ga2). Enzyme impairment leads to substrate accumulation in different organs, vascular endothelia, and biological fluids. Enzyme replacement therapy (ERT) is a commonly used treatment. Urinary analysis of Gb3 isoforms (different fatty acid moieties), as well as lyso-Gb3 and its analogues, is a reliable way to monitor treatment. These analogues correspond to lyso-Gb3 with chemical modifications on the sphingosine moiety (\u2212C2H4, \u2212C2H4+O, \u2212H2, \u2212H2+O, +O, +H2O2, and +H2O3). The effects of sample collection time on urinary biomarker levels between ERT cycles were not previously documented. The main objective of this project was to analyze the aforementioned biomarkers in urine samples from seven Fabry disease patients (three treated males, three treated females, and one ERT-na\u00efve male) collected twice a day (morning and evening) for 42 days (three ERT cycles). Except for one participant, our results show that the biomarker levels were generally more elevated in the evening. However, there was less variability in samples collected in the morning. No cyclic variations in biomarker levels were observed between ERT infusions.<\/jats:p>","DOI":"10.3390\/ijms21176114","type":"journal-article","created":{"date-parts":[[2020,8,25]],"date-time":"2020-08-25T09:24:56Z","timestamp":1598347496000},"page":"6114","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Diurnal Variation of Urinary Fabry Disease Biomarkers during Enzyme Replacement Therapy Cycles"],"prefix":"10.3390","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6289-1839","authenticated-orcid":false,"given":"Michel","family":"Boutin","sequence":"first","affiliation":[{"name":"CIUSSS de l\u2019Estrie-CHUS, Universit\u00e9 de Sherbrooke, Centre de Recherche-CHUS, 3001, 12th Avenue North, Sherbrooke, QC J1H 5N4, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pamela","family":"Lavoie","sequence":"additional","affiliation":[{"name":"CIUSSS de l\u2019Estrie-CHUS, Universit\u00e9 de Sherbrooke, Centre de Recherche-CHUS, 3001, 12th Avenue North, Sherbrooke, QC J1H 5N4, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8117-2247","authenticated-orcid":false,"given":"Iskren","family":"Menkovic","sequence":"additional","affiliation":[{"name":"CIUSSS de l\u2019Estrie-CHUS, Universit\u00e9 de Sherbrooke, Centre de Recherche-CHUS, 3001, 12th Avenue North, Sherbrooke, QC J1H 5N4, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda","family":"Toupin","sequence":"additional","affiliation":[{"name":"CIUSSS de l\u2019Estrie-CHUS, Universit\u00e9 de Sherbrooke, Centre de Recherche-CHUS, 3001, 12th Avenue North, Sherbrooke, QC J1H 5N4, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mona","family":"Abaoui","sequence":"additional","affiliation":[{"name":"CIUSSS de l\u2019Estrie-CHUS, Universit\u00e9 de Sherbrooke, Centre de Recherche-CHUS, 3001, 12th Avenue North, Sherbrooke, QC J1H 5N4, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maha","family":"Elidrissi-Elawad","sequence":"additional","affiliation":[{"name":"CIUSSS de l\u2019Estrie-CHUS, Universit\u00e9 de Sherbrooke, Centre de Recherche-CHUS, 3001, 12th Avenue North, Sherbrooke, QC J1H 5N4, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie-Fran\u00e7oise","family":"Arthus","sequence":"additional","affiliation":[{"name":"CIUSSS du Nord-de-l\u2019\u00cele-de-Montr\u00e9al, H\u00f4pital du Sacr\u00e9-Coeur de Montr\u00e9al, Clinical Research Unit, 5400 Gouin Blvd West, Montreal, QC H4J 1C5, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carole","family":"Fortier","sequence":"additional","affiliation":[{"name":"CIUSSS du Nord-de-l\u2019\u00cele-de-Montr\u00e9al, H\u00f4pital du Sacr\u00e9-Coeur de Montr\u00e9al, Clinical Research Unit, 5400 Gouin Blvd West, Montreal, QC H4J 1C5, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"M\u00e9nard","sequence":"additional","affiliation":[{"name":"CIUSSS du Nord-de-l\u2019\u00cele-de-Montr\u00e9al, H\u00f4pital du Sacr\u00e9-Coeur de Montr\u00e9al, Clinical Research Unit, 5400 Gouin Blvd West, Montreal, QC H4J 1C5, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6685-600X","authenticated-orcid":false,"given":"Bruno","family":"Maranda","sequence":"additional","affiliation":[{"name":"CIUSSS de l\u2019Estrie-CHUS, Universit\u00e9 de Sherbrooke, Centre de Recherche-CHUS, 3001, 12th Avenue North, Sherbrooke, QC J1H 5N4, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel G.","family":"Bichet","sequence":"additional","affiliation":[{"name":"CIUSSS du Nord-de-l\u2019\u00cele-de-Montr\u00e9al, H\u00f4pital du Sacr\u00e9-Coeur de Montr\u00e9al, Clinical Research Unit, 5400 Gouin Blvd West, Montreal, QC H4J 1C5, Canada"},{"name":"Department of Medicine Pharmacology and Physiology, Universit\u00e9 de Montr\u00e9al, 2900 \u00c9douard-Montpetit Blvd, Montreal, QC H3T 1J4, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3454-0588","authenticated-orcid":false,"given":"Christiane","family":"Auray-Blais","sequence":"additional","affiliation":[{"name":"CIUSSS de l\u2019Estrie-CHUS, Universit\u00e9 de Sherbrooke, Centre de Recherche-CHUS, 3001, 12th Avenue North, Sherbrooke, QC J1H 5N4, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,8,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/j.gene.2017.10.064","article-title":"Female fabry disease patients and X-chromosome 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Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1793","DOI":"10.4155\/bio-2016-0116","article-title":"Relative distribution of Gb3 isoforms\/analogs in NOD\/SCID\/fabry mice tissues determined by tandem mass spectrometry","volume":"8","author":"Boutin","year":"2016","journal-title":"Bioanalysis"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"13382","DOI":"10.1021\/acs.analchem.7b03609","article-title":"Separation and analysis of Lactosylceramide, Galabiosylceramide, and Globotriaosylceramide by LC-MS\/MS in urine of fabry disease patients","volume":"89","author":"Boutin","year":"2017","journal-title":"Anal. Chem."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1016\/j.cca.2015.11.018","article-title":"tandem mass spectrometry multiplex analysis of methylated and non-methylated urinary Gb3 isoforms in fabry disease patients","volume":"452","author":"Abaoui","year":"2016","journal-title":"Clin. Chim. Acta"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"3476","DOI":"10.1021\/ac404000d","article-title":"Multiplex tandem mass spectrometry analysis of novel plasma lyso-Gb3-related analogues in fabry disease","volume":"86","author":"Boutin","year":"2014","journal-title":"Anal. Chem."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1743","DOI":"10.1021\/ac303033v","article-title":"Multiplex analysis of novel urinary lyso-Gb3-related biomarkers for fabry disease by tandem mass spectrometry","volume":"85","author":"Lavoie","year":"2013","journal-title":"Anal. Chem."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"2745","DOI":"10.1021\/ac203433e","article-title":"Urinary globotriaosylsphingosine-related biomarkers for fabry disease targeted by metabolomics","volume":"84","author":"Boutin","year":"2012","journal-title":"Anal. 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