{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:48:00Z","timestamp":1760730480034,"version":"build-2065373602"},"reference-count":17,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1977,10]]},"abstract":"<jats:p>An alpha-L-iduronidase deficiency syndrome has been described in adult male twins, which was phenotypically distinct from that of the Hurler and Scheie syndromes or the chondroitinsulphaturias. Multiple dysostosis and stiff joints were present without cloudy corneae, cardiac involvement and mental or physical retardation. This clinical phenotype appeared to be a newly recognized allelic mutation at the iduronidase locus but does not exclude a non-allelic mutation coding for a subunit of the iduronidase molecule.<\/jats:p>","DOI":"10.1136\/jmg.14.5.346","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"346-351","source":"Crossref","is-referenced-by-count":6,"title":["Variant of iduronidase deficient mucopolysaccharidoses: further evidence for genetic heterogeneity."],"prefix":"10.1136","volume":"14","author":[{"given":"B S","family":"Danes","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1977,10,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1016\/S0140-6736(74)91846-7","article-title":"Chondroitinsulphaturia with o-L-iduronidase deficiency","volume":"2","author":"Babarik, A.; Benson, P.F.; Dean, M.F.; Muir, H.","year":"1974","unstructured":"Babarik, A., Benson, P. F., Dean, M. F., and Muir, H. (1974). Chondroitinsulphaturia with o-L-iduronidase deficiency. Lancet, 2, 464-465.","journal-title":"Lancet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1042\/bst0010231","article-title":"Genetic errors of mucopolysaccharide degradation","volume":"1","author":"Bach, G.; Cantz, M.; Hall, C.W.; Neufeld, E.F.","year":"1973","unstructured":"Bach, G., Cantz, M., Hall, C. W., and Neufeld, E. F. (1973). Genetic errors of mucopolysaccharide degradation. Biochemical Society Transactions, 1, 231-234.","journal-title":"Biochemical Society Transactions"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"2048","DOI":"10.1073\/pnas.69.8.2048","article-title":"The defect in the Hurler and Scheie syndromes: deficiency of a-L-iduronidase","volume":"69","author":"Bach, G.; Friedman, R.; Weissmann, B.; Neufeld, E.F.","year":"1972","unstructured":"Bach, G., Friedman, R., Weissmann, B., and Neufeld, E. F. (1972). The defect in the Hurler and Scheie syndromes: deficiency of a-L-iduronidase. Proceedings of the National Academy of Sciences of the United States of America, 69, 2048-2051.","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1111\/j.1469-8749.1972.tb02557.x","article-title":"A form of mucopolysaccharidosis with visceral storage and excessive urinary excretion of chondroitin sulphate","volume":"14","author":"Benson, P.F.; Dean, M.F.; Muir, H.","year":"1972","unstructured":"Benson, P. F., Dean, M. F., and Muir, H. (1972). A form of mucopolysaccharidosis with visceral storage and excessive urinary excretion of chondroitin sulphate. 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Academic Press, New York."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1084\/jem.126.3.509","article-title":"Hurler's syndrome: a genetic study of clones in cell culture with particular reference to the Lyon hypothesis","volume":"126","author":"Danes, B.S.; Bearn, A.G.","year":"1967","unstructured":"Danes, B. S., and Bearn, A. G. (1967). Hurler's syndrome: a genetic study of clones in cell culture with particular reference to the Lyon hypothesis. Journal of Experimental Medicine, 126, 509-522.","journal-title":"Journal of Experimental Medicine"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"93","DOI":"10.3109\/03008207209152061","article-title":"Measurement of urinary glycosaminoglycans with quatemary ammonium salts: an extension of the method","volume":"1","author":"Di Ferrante, N.; Neri, G.; Neri, M.E.; Hogsett, III, W.E.","year":"1972","unstructured":"Di Ferrante, N., Neri, G., Neri, M. E., and Hogsett, W. E., III. (1972). 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Biochemical and Biophysical Research Communications, 47, 959-964.","journal-title":"Biochemical and Biophysical Research Communications"},{"key":"ref_13","first-page":"81","article-title":"The biochemical basis for mucopolysaccharidoses and mucolipodoses","volume-title":"Progress in Medical Genetics","volume":"10","author":"Neufeld, E.F.","year":"1974","unstructured":"Neufeld, E. F. (1974). The biochemical basis for mucopolysaccharidoses and mucolipodoses. In Progress in Medical Genetics, vol. 10, pp. 81-101. Ed. by A. G. Steinberg and A. G. Bearn. Grune and Stratton, London and New York."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"854","DOI":"10.1016\/S0140-6736(69)92316-2","article-title":"Chondroitin-4sulphate mucopolysaccharidosis-a new variation of Hurler's syndrome","volume":"2","author":"Philippart, M.; Sugarman, G.I.","year":"1969","unstructured":"Philippart, M., and Sugarman, G. I. (1969). Chondroitin-4sulphate mucopolysaccharidosis-a new variation of Hurler's syndrome. Lancet, 2, 854.","journal-title":"Lancet"},{"key":"ref_15","first-page":"273284","article-title":"Clonal growth of mammalian cells in vitro, growth characteristics of colonies from single HeLa cells with and without a 'feeder' layer","volume":"103","author":"Puck, T.T.; Marcus, P.I.; Cieciura, S.J.","year":"1956","unstructured":"Puck, T. T., Marcus, P. I., and Cieciura, S. J. (1956). Clonal growth of mammalian cells in vitro, growth characteristics of colonies from single HeLa cells with and without a 'feeder' layer. Journal of Experimental Medicine, 103, 273284.","journal-title":"Journal of Experimental Medicine"},{"key":"ref_16","first-page":"1082","article-title":"Chondroitinsulphaturia with a-L-iduronidase deficiency","volume":"2","author":"Spranger, J.; Gehler, J.; O'Brien, J.F.; Cantz, M.","year":"1974","unstructured":"Spranger, J., Gehler, J., O'Brien, J. F., and Cantz, M. (1974). 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