{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T22:23:31Z","timestamp":1768083811966,"version":"3.49.0"},"reference-count":16,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2003,12,1]],"date-time":"2003-12-01T00:00:00Z","timestamp":1070236800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2003,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:bold>Summary:<\/jats:bold> The aim of this study was to describe the nature and prevalence of hearing loss in Fabry disease (McKusick 301500), a rare X\u2010linked lysosomal storage disorder, and its response to enzyme replacement therapy with agalsidase alfa. Fifteen hemizygous male Fabry patients (aged 25\u201349 years) were randomized to receive placebo or enzyme replacement therapy for 6 months; all have received open\u2010label enzyme replacement therapy for an additional 24 months thus far. Pure\u2010tone audiometry, impedance audiometry and otoacoustic emission testing were performed at 0 (baseline), 6, 18 and 30 months. Four patients (27%) had bilateral and 7 (47%) had unilateral high\u2010frequency sensorineural hearing loss (SNHL). Two (13%) had unilateral middle ear effusions with conductive losses persisting beyond 6 months. Only 3 (20%) had normal hearing. High\u2010frequency SNHL deteriorated over the first 6 months in both placebo and active treatment groups by a median 4.3 dB (<jats:italic>p<\/jats:italic>=0.002, Wilcoxon matched pairs). This hearing loss subsequently improved above baseline by 2.1 dB at 18 months (<jats:italic>p<\/jats:italic>=0.02) and by 4.9 dB at 30 months (<jats:italic>p<\/jats:italic>=0.004). In conclusion, significant hearing loss, usually high\u2010frequency SNHL, is a common manifestation of Fabry disease in adults. \u03b1\u2010Galactosidase A replacement therapy with agalsidase alfa appears to reverse the hearing deterioration in these patients. This improvement is gradual, however, suggesting the need for long\u2010term enzyme replacement therapy.<\/jats:p>","DOI":"10.1023\/b:boli.0000009948.86528.72","type":"journal-article","created":{"date-parts":[[2003,12,23]],"date-time":"2003-12-23T10:36:49Z","timestamp":1072175809000},"page":"787-794","source":"Crossref","is-referenced-by-count":66,"title":["Hearing loss in Fabry disease: The effect of agalsidase alfa replacement therapy"],"prefix":"10.1002","volume":"26","author":[{"given":"D.","family":"Hajioff","sequence":"first","affiliation":[{"name":"Department of Otolaryngology Royal Free Hospital  London"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Enever","sequence":"additional","affiliation":[{"name":"Clinical Trials Centre Royal Free and University College School of Medicine  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Quiney","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Royal Free Hospital  London"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Zuckerman","sequence":"additional","affiliation":[{"name":"Clinical Trials Centre Royal Free and University College School of Medicine  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Mackermot","sequence":"additional","affiliation":[{"name":"Clinical Trials Centre Royal Free and University College School of Medicine  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Mehta","sequence":"additional","affiliation":[{"name":"Department of Haematology Royal Free Hospital  London"},{"name":"Department of Haematology Royal Free Hospital  Pond Street London NW3 2QG UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,12]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"321 349","article-title":"Angiokeratoma corporis diffusum Fabry","volume":"128","author":"De Groot WP","year":"1964","journal-title":"Dermatalogica"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200107053450102"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-3-10"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.769"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.750"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/qjmed\/95.10.647"},{"key":"e_1_2_1_8_1","first-page":"1828 1845","volume-title":"Otolaryngology","author":"Meyerhoff WL","year":"1980"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1552-6569.2001.tb00051.x"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1161\/hc3801.096352"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1161\/hs0202.102601"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(01)05816-0"},{"key":"e_1_2_1_13_1","first-page":"325 333","article-title":"Advances in the management of Anderson\u2010Fabry disease","volume":"2","author":"Pastores GM","year":"2002","journal-title":"Expert Opin Biol Ther"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1177\/000348947608500607"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1177\/000348948909800509"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.285.21.2743"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1012993305223"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FB%3ABOLI.0000009948.86528.72","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/B%3ABOLI.0000009948.86528.72","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T12:37:59Z","timestamp":1694781479000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/B%3ABOLI.0000009948.86528.72"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,12]]},"references-count":16,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2003,12]]}},"alternative-id":["10.1023\/B:BOLI.0000009948.86528.72"],"URL":"https:\/\/doi.org\/10.1023\/b:boli.0000009948.86528.72","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,12]]}}}