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Clinical and roentgenographic findings were minimal compared to those of typical patients with the Morquio syndrome, MPS IV. \u03b2\u2010Galactosidase activity in extracts of the patient's cultured fibroblasts was deficient, while that of galactosamine\u20106\u2010sulfate sulfatase was normal. Conjunctival biopsy revealed intracytoplasmic vacuoles typical of lysosomal storage diseases. It is postulated that in this patient the deficiency of a \u03b2\u2010galactosidase is responsible for inadequate degradation of keratan sulfate and the appearance of a mild form of the Morquio syndrome (MPS IVB).<\/jats:p>","DOI":"10.1002\/ajmg.1320010205","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:40:18Z","timestamp":1118536818000},"page":"195-205","source":"Crossref","is-referenced-by-count":90,"title":["Morquio\u2010like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: Mucopolysaccharidosis IVB"],"prefix":"10.1002","volume":"1","author":[{"given":"Amir I.","family":"Arbisser","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen A.","family":"Donnelly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Charles I.","family":"Scott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"DiFerrante","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jagat","family":"Singh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger E.","family":"Stevenson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arthur S.","family":"Aylesworth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. 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