{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T14:17:01Z","timestamp":1782224221073,"version":"3.54.5"},"reference-count":35,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,12,11]],"date-time":"2006-12-11T00:00:00Z","timestamp":1165795200000},"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":[[2007,2]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p><jats:italic>Background:<\/jats:italic> Anderson\u2013Fabry Disease (AFD) is an inherited metabolic disease associated with premature death secondary to cardiovascular and renal disease. Patients with AFD develop progressive left ventricular (LV) remodelling and heart failure. We hypothesized that altered extracellular matrix (ECM) turnover contributes to the pathophysiology of cardiac disease in AFD. <jats:italic>Methods and Results:<\/jats:italic> Twenty\u2010nine consecutive patients (44.1 \u00b1 11.7 years, 15 male) with AFD and 21 normal controls (39.7 \u00b1 11.3 years, 10 male) had serum analysed for matrix metalloproteinase\u20109 (MMP\u20109), and tissue inhibitor of matrix metalloproteinase\u20101 and \u20102 (TIMP\u20101, TIMP\u20102). All patients underwent clinical assessment, echocardiography and Mainz Severity Score Index (MSSI) measurement, a validated severity score in AFD. MMP\u20109 levels were significantly higher in patients than controls (1003.8 \u00b1 337.8 ng\/ml vs 576.7 \u00b1 276.3 ng\/ml respectively, <jats:italic>p<\/jats:italic> &lt; 0.001). There were no differences in TIMP levels between patients and controls. There was a positive correlation between MMP\u20109 levels and MSSI (<jats:italic>r<\/jats:italic> = 0.5, <jats:italic>p<\/jats:italic> = 0.01). There was a negative correlation between MMP\u20109 and endocardial fractional shortening (FS) (<jats:italic>r<\/jats:italic> = \u22120.5, <jats:italic>p<\/jats:italic> = 0.01) and mid\u2010wall FS (<jats:italic>r<\/jats:italic> = \u22120.6, <jats:italic>p<\/jats:italic> = 0.001). There was no correlation between other echocardiographic parameters and MMP\u20109 levels. These relations were independent of age and sex using stepwise linear regression analysis. <jats:italic>Conclusions:<\/jats:italic> Patients with AFD have abnormal ECM turnover compared to normal controls. The correlation between MMP\u20109 levels and systolic function suggests that altered ECM turnover is important in cardiac remodelling. The association between MMP\u20109 and overall disease severity suggests that circulating levels of MMP\u20109 may provide a useful marker for assessing the response of patients with AFD to enzyme replacement treatment.<\/jats:p>","DOI":"10.1007\/s10545-006-0360-6","type":"journal-article","created":{"date-parts":[[2006,12,11]],"date-time":"2006-12-11T16:56:22Z","timestamp":1165856182000},"page":"88-95","source":"Crossref","is-referenced-by-count":29,"title":["Extracellular matrix turnover and disease severity in Anderson\u2013Fabry disease"],"prefix":"10.1002","volume":"30","author":[{"given":"J. S.","family":"Shah","sequence":"first","affiliation":[{"name":"The Heart Hospital, UCL London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. A.","family":"Hughes","sequence":"additional","affiliation":[{"name":"The Lysosomal Disorders Unit The Royal Free Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. H.","family":"Tayebjee","sequence":"additional","affiliation":[{"name":"City Hospital Dudley Road Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. J.","family":"MacFadyen","sequence":"additional","affiliation":[{"name":"City Hospital Dudley Road Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. B.","family":"Mehta","sequence":"additional","affiliation":[{"name":"The Lysosomal Disorders Unit The Royal Free Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. M.","family":"Elliott","sequence":"additional","affiliation":[{"name":"The Heart Hospital, UCL London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,12,11]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2362.2003.01187.x"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2002.tb03113.x"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1006\/rwgn.2001.0443"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.55.4.613"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9149(86)90771-X"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.HYP.31.4.929"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpheart.2001.281.1.H207"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01606034"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9149(69)90055-1"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1067\/mhj.2001.112238"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1159\/000070670"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(02)02380-X"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.HYP.0000024573.17293.23"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.750"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0955-0674(00)00248-9"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1042\/bst0270734"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2362.2004.01309.x"},{"issue":"10","key":"e_1_2_1_19_1","first-page":"595","article-title":"Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease","volume":"163","author":"Mills K","year":"2004","journal-title":"Eur J Pediatr"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ehj.2003.09.017"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb03018.x"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.31.21491"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2000.18.5.1135"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/heart.88.5.525"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjcard.2005.05.033"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.2004.035584"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.83.5.1676"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2005.01.007"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000129318.79570.84"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0895-7061(04)00855-6"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0895-7061(04)00902-1"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.2174\/0929867053507270"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2796.2004.01431.x"},{"key":"e_1_2_1_34_1","first-page":"253","volume-title":"Nomenclature and Criteria for Diagnosis of Diseases of the Heart and Great Vessels","year":"1994"},{"key":"e_1_2_1_35_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehi143"},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00219.x"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0360-6","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-006-0360-6","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0360-6","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:06:51Z","timestamp":1694750811000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-006-0360-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,12,11]]},"references-count":35,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2007,2]]}},"alternative-id":["10.1007\/s10545-006-0360-6"],"URL":"https:\/\/doi.org\/10.1007\/s10545-006-0360-6","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,12,11]]}}}