{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T13:18:05Z","timestamp":1779369485799,"version":"3.53.0"},"reference-count":20,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Therapeutic Advances in Rare Disease"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:p>Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders caused by deficient levels and\/or activity of glycosaminoglycan (GAG)-degradative enzymes. MPS are characterized by accumulation of the mucopolysaccharides heparan sulfate, dermatan sulfate, keratan sulfate, or chondroitin sulfate in tissues. We report the case of a 38-year-old woman with a history of joint restriction and retinitis pigmentosa who developed bivalvular heart failure requiring surgery. It was not until pathological examination of surgically excised valvular tissue that a diagnosis of MPS I was made. Her musculoskeletal and ophthalmologic symptoms, when placed in the context of MPS I, painted the diagnostic picture of a genetic syndrome that was overlooked until a diagnosis was made in late middle age.<\/jats:p>","DOI":"10.1177\/26330040221145945","type":"journal-article","created":{"date-parts":[[2023,1,13]],"date-time":"2023-01-13T01:15:00Z","timestamp":1673572500000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Left-sided valvular heart disease and retinopathy in a 38-year-old woman with attenuated mucopolysaccharidosis: a case report"],"prefix":"10.1177","volume":"4","author":[{"given":"Faizal Z.","family":"Asumda","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Pathology, Medical College of Georgia \u2013 Augusta University Medical Center, Augusta, GA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica A.","family":"Kraker","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Mayo Clinic, Rochester, MN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah C.","family":"Thomas","sequence":"additional","affiliation":[{"name":"Department of Pathology, Mayo Clinic, Rochester, MN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Maleszewski","sequence":"additional","affiliation":[{"name":"Department of Pathology, Mayo Clinic, Rochester, MN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin M.","family":"Stone","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brendan C.","family":"Lanpher","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Mayo Clinic, Rochester, MN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa A.","family":"Schimmenti","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Mayo Clinic, 201 1st St SW, Rochester, MN 55905, USA"},{"name":"Department of Otorhinolaryngology \u2013 Head and Neck Surgery, Mayo Clinic, Rochester, MN, USA"},{"name":"Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA"},{"name":"Department of Ophthalmology, Mayo Clinic, Rochester, MN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2023,1,12]]},"reference":[{"key":"bibr1-26330040221145945","volume-title":"GeneReviews [Internet].","author":"Clarke LA."},{"key":"bibr2-26330040221145945","volume-title":"The online metabolic and molecular bases of inherited disease","author":"Neufeld EF","year":"2019"},{"key":"bibr3-26330040221145945","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9533-7"},{"key":"bibr4-26330040221145945","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9149(76)90468-9"},{"key":"bibr5-26330040221145945","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9149(88)91325-2"},{"key":"bibr6-26330040221145945","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9359-8"},{"key":"bibr7-26330040221145945","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-019-0662-9"},{"key":"bibr8-26330040221145945","unstructured":"Recommended Uniform Screening Panel. 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