{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T01:51:40Z","timestamp":1781229100148,"version":"3.54.1"},"reference-count":17,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,4,24]],"date-time":"2017-04-24T00:00:00Z","timestamp":1492992000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100007343","name":"Shire","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007343","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:p>Fabry disease (FD) is a multisystem lysosomal storage disorder caused by mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">GLA<\/jats:styled-content><\/jats:italic> gene. The clinical significance of the mutation p.<jats:styled-content style=\"fixed-case\">D313Y<\/jats:styled-content> is still under debate. Retrospective chart analysis of clinical (neurological, cardiac, renal, and ophthalmological), genetic, and biochemical (lyso\u2010globotriaosylsphingosine, lyso\u2010Gb3; enzyme activity) data was performed in all our patients carrying the p.<jats:styled-content style=\"fixed-case\">D313Y<\/jats:styled-content> mutation. Fourteen patients from 5 families (10 female, 4 male; age range 10\u201051) were included. Symptoms and organ manifestations compatible with FD could be identified in 10 patients. Cerebrovascular events occurred in 4 females. Seven patients reported pain or acroparaesthesia. Cornea verticillata was found in 1 patient, mild retinal vascular tortuosity in 5 patients. Lyso\u2010Gb3 was elevated in 2 females with cerebrovascular involvement. Classical cardiac, renal or skin manifestations could not be identified. The mutation p.<jats:styled-content style=\"fixed-case\">D313Y<\/jats:styled-content> in the <jats:italic><jats:styled-content style=\"fixed-case\">GLA<\/jats:styled-content><\/jats:italic> gene may lead to organ manifestations and elevation of the Fabry\u2010specific biomarker lyso\u2010Gb3. Neurological symptoms (stroke and pain) and ocular manifestations seem to be the leading findings. Annual routine visits are recommended for patients carrying the p.<jats:styled-content style=\"fixed-case\">D313Y<\/jats:styled-content> mutation. Enzyme replacement therapy might be considered in symptomatic patients.<\/jats:p>","DOI":"10.1111\/cge.13007","type":"journal-article","created":{"date-parts":[[2017,3,9]],"date-time":"2017-03-09T08:32:53Z","timestamp":1489048373000},"page":"528-533","source":"Crossref","is-referenced-by-count":29,"title":["The mutation p.<scp>D313Y<\/scp> is associated with organ manifestation in Fabry disease"],"prefix":"10.1111","volume":"92","author":[{"given":"M.","family":"du Moulin","sequence":"first","affiliation":[{"name":"Department of Paediatrics University Medical Centre Hamburg\u2010Eppendorf  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.F.","family":"Koehn","sequence":"additional","affiliation":[{"name":"Department of Paediatrics University Medical Centre Hamburg\u2010Eppendorf  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Golsari","sequence":"additional","affiliation":[{"name":"Department of Neurology 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Hamburg\u2010Eppendorf  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Avanesov","sequence":"additional","affiliation":[{"name":"Department of Radiology University Medical Centre Hamburg\u2010Eppendorf  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Ullrich","sequence":"additional","affiliation":[{"name":"Martin Zeitz Centre for Rare Diseases University Medical Centre Hamburg\u2010Eppendorf  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Muschol","sequence":"additional","affiliation":[{"name":"Department of Paediatrics University Medical Centre Hamburg\u2010Eppendorf  Hamburg 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