{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:50:43Z","timestamp":1762005043581,"version":"3.41.2"},"reference-count":12,"publisher":"American Academy of Pediatrics (AAP)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,12,1]]},"abstract":"<jats:p>Mucopolysaccharidosis type VI (MPS VI) is a clinically heterogeneous lysosomal disease, which can be divided into 2 main categories on the basis of age of onset and severity of symptoms. The diagnosis of the attenuated form is often delayed given subtle facial features rather than the typical coarse facial features of the classic form. Here, we discuss the difficulties in establishing the diagnosis of MPS VI on the basis of the report of 4 individuals. The most common signs and symptoms in our series were bone abnormalities and hip pain as initial manifestations and cardiac changes detected after follow-up studies. On the basis of our cohort and others worldwide, awareness of attenuated forms of MPS VI should be increased particularly among general practitioners, pediatricians, rheumatologists, orthopedists, ophthalmologists, and cardiologists. Moreover, these health care providers should be aware of the technical aspects involved in the molecular and biochemical diagnosis process so that they are aware how diagnostic errors may occur.<\/jats:p>","DOI":"10.1542\/peds.2018-0658","type":"journal-article","created":{"date-parts":[[2018,11,23]],"date-time":"2018-11-23T13:25:14Z","timestamp":1542979514000},"source":"Crossref","is-referenced-by-count":6,"title":["Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic Pitfalls"],"prefix":"10.1542","volume":"142","author":[{"given":"Filippo","family":"Pinto e Vairo","sequence":"first","affiliation":[{"name":"Center for Individualized Medicine, and"},{"name":"Departments of Health Sciences Research,"},{"name":"Clinical Genomics,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erin","family":"Conboy","sequence":"additional","affiliation":[{"name":"Clinical Genomics,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolina Fischinger Moura","family":"de Souza","sequence":"additional","affiliation":[{"name":"Medical Genetics Service, Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amie","family":"Jones","sequence":"additional","affiliation":[{"name":"Pediatric and Adolescent Medicine, and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah S.","family":"Barnett","sequence":"additional","affiliation":[{"name":"Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric W.","family":"Klee","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine, and"},{"name":"Departments of Health Sciences Research,"},{"name":"Clinical Genomics,"},{"name":"Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brendan 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