{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T08:19:39Z","timestamp":1696580379232},"reference-count":11,"publisher":"FapUNIFESP (SciELO)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Rev. Hosp. Clin."],"published-print":{"date-parts":[[2000,12]]},"abstract":"<jats:p>The mucopolysaccharidoses (MPS) are a heterogeneous group of inborn errors of lysosomal glycosaminoglycan (GAG) metabolism. The importance of this group of disorders among the inborn errors of metabolism led us to report 19 cases. METHOD: We performed clinical, radiological, and biochemical evaluations of the suspected patients, which allowed us to establish a definite diagnosis in 19 cases. RESULTS: Not all patients showed increased GAG levels in urine; enzyme assays should be performed in all cases with strong clinical suspicion. The diagnosis was made on average at the age of 48 months, and the 19 MPS cases, after a full clinical, radiological, and biochemical study, were classified as follows: Hurler -- MPS I (1 case); Hunter -- MPS II (2 cases); Sanfilippo -- MPS III (2 cases); Morquio -- MPS IV (4 cases); Maroteaux-Lamy -- MPS VI (9 cases); and Sly -- MPS VII (1 case). DISCUSSION: The high relative frequency of Maroteaux-Lamy disease contrasts with most reports in the literature and could express a population variability.<\/jats:p>","DOI":"10.1590\/s0041-87812000000600004","type":"journal-article","created":{"date-parts":[[2005,4,27]],"date-time":"2005-04-27T09:21:32Z","timestamp":1114593692000},"page":"213-218","source":"Crossref","is-referenced-by-count":17,"title":["Clinical and laboratorial study of 19 cases of mucopolysaccharidoses"],"prefix":"10.1590","volume":"55","author":[{"given":"Lilian M. 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