{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T06:35:29Z","timestamp":1773297329370,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2013,8,15]],"date-time":"2013-08-15T00:00:00Z","timestamp":1376524800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Maroteaux\u2013Lamy syndrome (mucopolysaccharidosis type VI) is a rare lysosomal storage disorder in which the pathologic storage of glycosaminoglycans in various tissues can lead to severe symptoms, including cardiomyopathy. We report on a child with Maroteaux\u2013Lamy syndrome whose cardiac condition deteriorated and eventually led to cardiac failure at the age of 7 years due to severe mitral regurgitation. She received a mitral valve replacement and tricuspid repair with successful outcome. Histologic examination of the mitral valve showed abundant \u201cclear\u201d cells in both the leaflets and chordae tendineae. In Hurler disease (MPS I), similar cells have been identified as activated valvular interstitial cells (VICs, a myofibroblast like cell type). Here we report that the \u201cclear\u201d cells are CD68 positive, a frequently used marker of macrophage lineage. The \u201cclear\u201d cells remained unstained with the more specific macrophage marker CD14 while persistent staining of other cells demonstrated macrophage infiltration. From these observations, we infer that macrophages are involved in mitral valve pathology in MPS VI. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36105","type":"journal-article","created":{"date-parts":[[2013,8,16]],"date-time":"2013-08-16T03:32:04Z","timestamp":1376623924000},"page":"2550-2553","source":"Crossref","is-referenced-by-count":7,"title":["Macrophage involvement in mitral valve pathology in mucopolysaccharidosis type VI (Maroteaux\u2013lamy syndrome)"],"prefix":"10.1002","volume":"161","author":[{"given":"Marion","family":"Brands","sequence":"first","affiliation":[{"name":"Center for Lysosomal and Metabolic Diseases, Departments of Pediatrics and Clinical Genetics Erasmus MC University Medical Center Rotterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorine","family":"Roelants","sequence":"additional","affiliation":[{"name":"Center for Lysosomal and Metabolic Diseases, Departments of Pediatrics and 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