{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,21]],"date-time":"2026-03-21T19:06:40Z","timestamp":1774120000978,"version":"3.50.1"},"reference-count":27,"publisher":"Wiley","issue":"S2","license":[{"start":{"date-parts":[[2008,10,21]],"date-time":"2008-10-21T00:00:00Z","timestamp":1224547200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100013015","name":"Cedars-Sinai Medical Center","doi-asserted-by":"publisher","award":["M01\u2010RR0425"],"award-info":[{"award-number":["M01\u2010RR0425"]}],"id":[{"id":"10.13039\/100013015","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2008,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Fabry disease is an X\u2010linked glycosphingolipidosis caused by a deficiency of \u03b1\u2010galactosidase A, a lysosomal enzyme. Symptoms in hemizygous males and heterozygous females are due to lysosomal storage of globotriaosylceramide in the central and peripheral nervous system, vascular endothelium, cardiac valves and myocytes, gastrointestinal tract, and renal epithelium. Pulmonary involvement is also a recognized manifestation of Fabry disease, but histopathological evidence of pulmonary lysosomal storage is scant. We report a 51\u2010year\u2010old woman with a G43R \u03b1\u2010galactosidase A mutation and normal spirometry testing 2.5 years prior to presentation, who experienced a dry, nonproductive cough that persisted despite treatment with antibiotics and bronchodilators. Spirometry demonstrated a mixed restrictive\/obstructive pattern as well as impaired gas exchange. Patchy ground\u2010glass pulmonary interstitial infiltrates were found on plain radiography and computerized tomography. She underwent an open lung biopsy that demonstrated peribronchiolar fibrosis and smooth\u2010muscle hyperplasia. Prominent inclusion bodies of the bronchiolar\/arteriolar smooth muscle and endothelium were present. Electron microscopy indicated the inclusion bodies were lamellated zebra bodies consistent with globotriaosylceramide storage. Enzyme replacement therapy (ERT) with agalsidase\u2010beta was instituted. Since initiation of therapy, she occasionally has a dry cough but markers of obstructive lung disease have remained stable in the past 4 years. This report demonstrates that pulmonary involvement in Fabry disease is due to lysosomal storage, and suggests that ERT is capable of stabilizing pulmonary Fabry disease. However, progressive worsening of her total lung capacity indicates that ERT cannot reverse the ongoing process of fibrosis also seen in Fabry disease.<\/jats:p>","DOI":"10.1007\/s10545-008-0930-x","type":"journal-article","created":{"date-parts":[[2008,10,20]],"date-time":"2008-10-20T12:10:18Z","timestamp":1224504618000},"page":"369-374","source":"Crossref","is-referenced-by-count":25,"title":["Enzyme replacement therapy stabilizes obstructive pulmonary Fabry disease associated with respiratory globotriaosylceramide storage"],"prefix":"10.1002","volume":"31","author":[{"given":"R. Y.","family":"Wang","sequence":"first","affiliation":[{"name":"Division of Metabolic Disorders Children's Hospital of Orange County 455 S Main Street Orange CA 92868 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. T.","family":"Abe","sequence":"additional","affiliation":[{"name":"Peninsula Pulmonary Medical Associates Torrance California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. H.","family":"Cohen","sequence":"additional","affiliation":[{"name":"Division of Pathology and Laboratory Medicine Cedars\u2010Sinai Medical Center Los Angeles California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. R.","family":"Wilcox","sequence":"additional","affiliation":[{"name":"Medical Genetics Institute Cedars\u2010Sinai Medical Center Los Angeles California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,10,21]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(99)90092-8"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000005658.14563.77"},{"issue":"6","key":"e_1_2_6_4_1","first-page":"681","article-title":"Fabry's disease: a correlative clinical, morphologic, and biochemical study","volume":"18","author":"Bagdade JD","year":"1968","journal-title":"Lab Invest"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(72)90194-5"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000087675"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0361-5"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1164\/ajrccm.155.3.9116979"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/318809"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200107053450102"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2006080816"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0473-y"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0340-x"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(78)90542-9"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/thorax.55.8.720"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.96.09020340"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31600"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0616-9"},{"issue":"2","key":"e_1_2_6_19_1","first-page":"269","article-title":"Infantile GM1\u2010gangliosidosis with marked manifestation of lungs","volume":"29","author":"Matsumoto T","year":"1979","journal-title":"Acta Pathol Jpn"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.05.00034805"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2559.2006.02355.x"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(80)90224-7"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.97.1.365"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.285.21.2743"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2559.1991.tb01510.x"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31802d8321"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.09.013"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehi143"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-008-0930-x","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-008-0930-x","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-008-0930-x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:23:40Z","timestamp":1694751820000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-008-0930-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,10,21]]},"references-count":27,"journal-issue":{"issue":"S2","published-print":{"date-parts":[[2008,12]]}},"alternative-id":["10.1007\/s10545-008-0930-x"],"URL":"https:\/\/doi.org\/10.1007\/s10545-008-0930-x","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,10,21]]}}}