{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:57Z","timestamp":1753869717992,"version":"3.41.2"},"reference-count":29,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,3,4]],"date-time":"2022-03-04T00:00:00Z","timestamp":1646352000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004339","name":"Sanofi","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004339","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Fabry disease (FD) is caused by a defect in \u03b1\u2010galactosidase A gene (GLA) which leads to a progressive accumulation of neutral shingolipids, mainly globotriaosylceramide and its metabolites in several organs. Pulmonary manifestations of FD mimic chronic obstructive pulmonary disease and are disproportionate to smoking status. The effect of enzyme replacement therapy (ERT) on pulmonary function is inconclusive.<\/jats:p><jats:p>We studied the effect of ERT on pulmonary function in FD with a mutation p. Arg227Ter (p.R227*) which is one of the most common mutations causing classical FD in Finland and worldwide.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Patients were annually examined by multidisciplinary team. Based on the maximal pulmonary oxygen consumption at the baseline, either cardiopulmonary exercise test or combination of spirometry and 6\u2010minute walking test were performed annually during 5\u2010year follow\u2010up.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Four males and eight females met the criteria for ERT and were included in this study. Three of 12 patients had obstruction by GOLD criterion before ERT, and one had a borderline obstruction. In 5 years, five patients were classified as obstructive, although the real change in FEV1\/FVC was unchanged in the whole cohort. Only one patient was an active smoker.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In nonsmokers, pulmonary manifestations in classical FD are mild and might be stabilized by ERT.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1915","type":"journal-article","created":{"date-parts":[[2022,3,5]],"date-time":"2022-03-05T07:40:38Z","timestamp":1646466038000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Pulmonary manifestations and the effectiveness of enzyme replacement therapy in Fabry Disease with the p. Arg227Ter (p.R227*) mutation"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4502-8934","authenticated-orcid":false,"given":"P\u00e4ivi","family":"Pietil\u00e4\u2010Effati","sequence":"first","affiliation":[{"name":"Department of Cardiology Vaasa Central Hospital  Vaasa Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johan","family":"S\u00f6derstr\u00f6m","sequence":"additional","affiliation":[{"name":"Department of Pulmonology Vaasa Central Hospital  Vaasa Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jukka T.","family":"Saarinen","sequence":"additional","affiliation":[{"name":"Department of Neurology Vaasa Central Hospital  Vaasa Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eliisa","family":"L\u00f6yttyniemi","sequence":"additional","affiliation":[{"name":"Department of Biostatistics University of Turku  Turku Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilkka","family":"Kantola","sequence":"additional","affiliation":[{"name":"Division of Medicine Turku University Hospital, University of Turku  Turku Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,3,4]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0712309105"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1164\/ajrccm.166.1.at1102"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13694"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0253-6"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1164\/ajrccm.155.3.9116979"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1006\/rwgn.2001.0443"},{"issue":"6","key":"e_1_2_10_8_1","first-page":"1186","article-title":"Nature and frequency of mutations in the alpha\u2010galactosidase a gene that cause fabry disease","volume":"53","author":"Eng C. M.","year":"1993","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1164\/ajrccm.158.5.9710086"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000369293"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0180437"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmjresp-2018-000277"},{"key":"e_1_2_10_13_1","unstructured":"Giugliani R. Beck M. Hughes D. Gurevich A. Kalampoki V. Nicholls K. Ramaswami U. Reisin R. &West M.(2019).Classification of genetic variant in patients with fabry disease enrolled in the fabry outcome survey (FOS). InPaper presented at the 15th Annual WORLD Symposium Orlando Florida USA."},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/1465-9921-13-13"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1080\/00365513.2018.1439185"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-0848-3"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0473-4"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.750"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/crj.12446"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.930"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200703-456SO"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2001-14342"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(80)90224-7"},{"volume-title":"Pulmonary involvement in Anderson Fabry disease","year":"2013","author":"Shafi N.","key":"e_1_2_10_24_1"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2559.1991.tb01510.x"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-017-1779-6"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-3768.1984.tb08444.x"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181bb05bb"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2018.06.004"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00219.x"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1915","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1915","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1915","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T19:52:12Z","timestamp":1692993132000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1915"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3,4]]},"references-count":29,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2022,5]]}},"alternative-id":["10.1002\/mgg3.1915"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1915","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"type":"print","value":"2324-9269"},{"type":"electronic","value":"2324-9269"}],"subject":[],"published":{"date-parts":[[2022,3,4]]},"assertion":[{"value":"2021-11-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-02-17","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-03-04","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1915"}}