{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T19:34:13Z","timestamp":1772998453744,"version":"3.50.1"},"reference-count":24,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,2,13]],"date-time":"2018-02-13T00:00:00Z","timestamp":1518480000000},"content-version":"vor","delay-in-days":318,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["CP Human Genetics"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fabry disease is a complex, panethnic lysosomal storage disorder. It is characterized by the accumulation of glycosphingolipids in tissues, organs, the vascular endothelium, and biological fluids. The reported incidence in different populations is quite variable, ranging from 1:1400 to 1:117,000. Its complexity lies in the marked genotypic and phenotypic heterogeneity. Despite the fact that it is an X\u2010linked disease, more than 600 mutations affect both males and females. In fact, some females may be affected as severely as males. The purpose of this protocol is to focus on the high\u2010risk screening of patients who might have Fabry disease using a simple, rapid, non\u2010invasive high performance liquid chromatography\u2010tandem mass spectrometry (HPLC\u2010MS\/MS) method for urinary globotriaosylceramide (Gb<jats:sub>3<\/jats:sub>) analysis. Urine filter paper samples are easily collected at home by patients and sent by regular mail. This method has been successfully used for high\u2010risk screening of patients with ophthalmologic manifestations and in an on\u2010going study for high\u2010risk screening of Fabry disease in patients with chronic kidney diseases. \u00a9 2017 by John Wiley &amp; Sons, Inc.<\/jats:p>","DOI":"10.1002\/cphg.34","type":"journal-article","created":{"date-parts":[[2017,4,6]],"date-time":"2017-04-06T19:33:58Z","timestamp":1491507238000},"source":"Crossref","is-referenced-by-count":6,"title":["High\u2010Risk Screening for Fabry Disease: Analysis by Tandem Mass Spectrometry of Globotriaosylceramide (Gb<sub>3<\/sub>) in Urine Collected on Filter Paper"],"prefix":"10.1002","volume":"93","author":[{"given":"Christiane","family":"Auray\u2010Blais","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Centre de recherche du CHUS, Universit\u00e9 de Sherbrooke  Sherbrooke Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pamela","family":"Lavoie","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Centre de recherche du CHUS, Universit\u00e9 de Sherbrooke  Sherbrooke Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michel","family":"Boutin","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Centre de recherche du CHUS, Universit\u00e9 de Sherbrooke  Sherbrooke Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mona","family":"Abaoui","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Centre de recherche du CHUS, Universit\u00e9 de Sherbrooke  Sherbrooke Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,2,13]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2015.11.018"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0712309105"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.2009.176651"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.2174\/092986712800784739"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1025115405074"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.10.001"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010009\u20101055\u20106"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.11.008"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1021\/ac203433e"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2014.08.002"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13361\u2010014\u20101060\u20103"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003\u20104819\u2010146\u20106\u2010200703200\u201000007"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.2174\/0929867311320020008"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20105\u201030"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1021\/ac303033v"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.109.862920"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1021\/ac401542k"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.281.3.249"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.15353\/cjo.74.550"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.08.003"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.06090809"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523\u20101755.2002.00675.x"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010006\u20100484\u20108"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31802d8321"}],"container-title":["Current Protocols in Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fcphg.34","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/cphg.34","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/cphg.34","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/currentprotocols.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/cphg.34","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T05:09:09Z","timestamp":1692508149000},"score":1,"resource":{"primary":{"URL":"https:\/\/currentprotocols.onlinelibrary.wiley.com\/doi\/10.1002\/cphg.34"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4]]},"references-count":24,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,4]]}},"alternative-id":["10.1002\/cphg.34"],"URL":"https:\/\/doi.org\/10.1002\/cphg.34","archive":["Portico"],"relation":{},"ISSN":["1934-8266","1934-8258"],"issn-type":[{"value":"1934-8266","type":"print"},{"value":"1934-8258","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,4]]}}}