{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T19:50:51Z","timestamp":1769457051439,"version":"3.49.0"},"reference-count":33,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,9,29]],"date-time":"2015-09-29T00:00:00Z","timestamp":1443484800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:p>Fabry disease is an X\u2010linked metabolic storage disorder due to the deficiency of lysosomal alpha\u2010galactosidase A which causes accumulation of glycosphingolipids, primarily globotriaosylceramide, throughout the body. Gastrointestinal signs and symptoms\u00a0\u2013\u00a0abdominal pain, nausea, diarrhea and diverticular disease\u00a0\u2013\u00a0are some of the most frequently reported complaints in patients with Fabry disease but are often neglected. Gastrointestinal symptoms are due to intestinal dysmotility as well as impaired autonomic function, vasculopathy and myopathy. Since 2001, enzyme replacement therapy has been a mainstay in treatment of gastrointestinal symptoms of Fabry disease (<jats:styled-content style=\"fixed-case\">FD<\/jats:styled-content>), resulting in reduced gastrointestinal symptoms. Here, we report on four patients with Fabry disease (<jats:styled-content style=\"fixed-case\">FD<\/jats:styled-content>) who manifested early gastrointestinal involvement.<\/jats:p>","DOI":"10.1111\/cge.12673","type":"journal-article","created":{"date-parts":[[2015,9,3]],"date-time":"2015-09-03T10:03:49Z","timestamp":1441274629000},"page":"5-9","source":"Crossref","is-referenced-by-count":45,"title":["Gastrointestinal involvement in Fabry disease. So important, yet often neglected"],"prefix":"10.1111","volume":"89","author":[{"given":"J.","family":"Politei","sequence":"first","affiliation":[{"name":"Department of Neurology Fundaci\u00f3n para el Estudio de las Enfermedades Neurometab\u00f3licas (FESEN) Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.L.","family":"Thurberg","sequence":"additional","affiliation":[{"name":"Department of Pathology Genzyme Corporation Framingham MA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Wallace","sequence":"additional","affiliation":[{"name":"Department of Medicine University of Alabama Birmingham AL USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Warnock","sequence":"additional","affiliation":[{"name":"Department of Medicine University of Alabama Birmingham AL 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