{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,1,26]],"date-time":"2024-01-26T17:08:03Z","timestamp":1706288883263},"reference-count":41,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,5]],"date-time":"2005-06-05T00:00:00Z","timestamp":1117929600000},"content-version":"vor","delay-in-days":6030,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1988,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a 19\u2010year\u2010old white male with juvenile galactosialidosis. He presented with hip arthralgia and was found to have facial \u201ccoarseness,\u201d corneal clouding, mitral and aortic insufficiency, and hepatosplenomegaly. Ultrastructural studies of skin biopsy and peripheral blood lymphocytes showed membrane\u2010bound inclusions containing sparse fibrillogranular material. Biochemical analysis showed elevated urinary sialyloligosaccharides and no free sialic acid. Fibroblast enzyme analysis showed low activities of both \u03b1\u2010neuraminidase and \u03b2\u2010galactosidase. To date, most patients with juvenile galactosialidosis have been Japanese. However, unlike those patients, our patient did not have macular cherry\u2010red spots, neurologic abnormalities, or mental retardation. We speculate that this young man represents a new subtype of juvenile galactosialidosis with a potentially different molecular defect from that of the Japanese variant.<\/jats:p>","DOI":"10.1002\/ajmg.1320310423","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:53:04Z","timestamp":1118537584000},"page":"887-901","source":"Crossref","is-referenced-by-count":10,"title":["Juvenile galactosialidosis in a white male: A new variant"],"prefix":"10.1002","volume":"31","author":[{"given":"David","family":"Chitayat","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Derek A.","family":"Applegarth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joyce","family":"Lewis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James E.","family":"Dimmick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew Q.","family":"McCormick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judith G.","family":"Hall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320010205"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80968-1"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.79.15.4535"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(67)90141-8"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/257060a0"},{"key":"e_1_2_1_7_1","first-page":"1126","article-title":"Juvenile neuronal storage disease with macular cherry\u2010red spots (sialidosis)\u2014Sialidose deficiency with or without beta\u2010galactosidase deficiency (in Japanese)","volume":"23","author":"Goto I","year":"1979","journal-title":"Adv Neurol Sci"},{"key":"e_1_2_1_8_1","first-page":"669","article-title":"Infantile sialidosis: A phenocopy of type I GMI gangliosidosis distinguished by genetic complementation and urinary oligosaccharides","volume":"31","author":"Gravel RA","year":"1979","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_9_1","first-page":"258","article-title":"Morquio syndrome (mucopolysaccharidosis IV B) associated with beta\u2010galactosialidosis deficiency. 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