{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:10:07Z","timestamp":1760764207684,"version":"build-2065373602"},"reference-count":15,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1978,6]]},"abstract":"<jats:p>The occurrence of the Hurler syndrome and acute myelogenous leukaemia in a 2 1\/2-year-old girl is described. This represents the first published report of the concurrence of these two diseases.<\/jats:p>","DOI":"10.1136\/jmg.15.3.239","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"239-242","source":"Crossref","is-referenced-by-count":2,"title":["Acute myelogenous leukaemia in Hurler's syndrome."],"prefix":"10.1136","volume":"15","author":[{"given":"K T","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R W","family":"McKenna","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R J","family":"Desnick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1978,6,1]]},"reference":[{"key":"ref_1","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.; Weissman, B.; Neufeld, E.F.","year":"1972","unstructured":"Bach, G., Friedman, R., Weissman, 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 ofthe United States ofAmerica, 69, 2048-2051.","journal-title":"Proceedings of the National Academy of Sciences ofthe United States ofAmerica"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1056\/NEJM196601062740102","article-title":"Chromosome abnormalities in constitutional aplastic anemia","volume":"274","author":"Bloom, G.E.; Warner, S.; Gerald, P.S.; Diamond, L.K.","year":"1966","unstructured":"Bloom, G. E., Warner, S., Gerald, P. S., and Diamond, L. K. (1966). Chromosome abnormalities in constitutional aplastic anemia. New England Journal ofMedicine, 274, 8-14.","journal-title":"New England Journal ofMedicine"},{"key":"ref_3","first-page":"77","article-title":"Isolation of mononuclear cells and granulocytes from human blood","volume":"96","author":"Boyum, A.","year":"1968","unstructured":"Boyum, A. (1968). Isolation of mononuclear cells and granulocytes from human blood. Scandinavian Journal of Clinical and Laboratory Investigation, 96, Suppl., 77-89.","journal-title":"Scandinavian Journal of Clinical and Laboratory Investigation"},{"key":"ref_4","first-page":"112","article-title":"Combined mongolism and leukemia: report of eight cases with chromosome studies","volume":"ofChildren,","author":"Conen, P.E.; Erkman, B.","year":"1966","unstructured":"Conen, P. E., and Erkman, B. (1966). Combined mongolism and leukemia: report of eight cases with chromosome studies. American Journal ofDiseases ofChildren, 112,429-443.","journal-title":"American Journal ofDiseases"},{"key":"ref_5","first-page":"157","article-title":"Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. a-Galactosidase activities in plasma, serum, leukocytes, and urine","volume":"81","author":"Desnick, R.J.; Allen, K.Y.; Desnick, S.J.; Bernlohr, R.W.; Krivit, W.","year":"1973","unstructured":"Desnick, R. J., Allen, K. Y., Desnick, S. J., Bernlohr, R. W., and Krivit, W. (1973). Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. a-Galactosidase activities in plasma, serum, leukocytes, and urine. Journal ofLaboratory and Clinical Medicine, 81, 157-171.","journal-title":"Journal ofLaboratory and Clinical Medicine"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1016\/0003-9861(73)90577-8","article-title":"a-L-iduronidase activity in cultural skin fibroblasts and amniotic fluid cells","volume":"158","author":"Hall, D.W.; Neufeld, E.F.","year":"1973","unstructured":"Hall, D. W., and Neufeld, E. F. (1973). a-L-iduronidase activity in cultural skin fibroblasts and amniotic fluid cells. Archives ofBiochemistry and Biophysics, 158, 817-821.","journal-title":"Archives ofBiochemistry and Biophysics"},{"key":"ref_7","first-page":"94","article-title":"Simultaneous occurrence of mongolism and leukemia","author":"Krivit, W.; Good, R.A.","year":"1957","unstructured":"Krivit, W., and Good, R. A. (1957). Simultaneous occurrence of mongolism and leukemia. American Journal of Diseases of Children, 94,289-293.","journal-title":"American Journal of Diseases of Children"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1056\/NEJM197101282840425","article-title":"Relative frequency of the Hurler and Hunter syndromes (letter)","volume":"284","author":"Lowry, R.B.; Renwick, D.H.G.","year":"1971","unstructured":"Lowry, R. B., and Renwick, D. H. G. (1971). Relative frequency of the Hurler and Hunter syndromes (letter). New England Journal ofMedicine, 284, 221-222.","journal-title":"New England Journal ofMedicine"},{"key":"ref_9","first-page":"546","article-title":"Heritable Disorders of Connective Tissue","author":"McKusick, V.A.","year":"1972","unstructured":"McKusick, V. A. (1972). Heritable Disorders of Connective Tissue, 4th ed., p. 546. C. V. Mosby, St. Louis.","edition":"4th ed"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"487","DOI":"10.7326\/0003-4819-65-3-487","article-title":"Chromosomal breakage and acute leukemia in congenital telangiectatic erythema and stunted growth","volume":"65","author":"Sawitsky, A.; Bloom, D.; German, J.","year":"1966","unstructured":"Sawitsky, A., Bloom, D., and German, J. (1966). Chromosomal breakage and acute leukemia in congenital telangiectatic erythema and stunted growth. Annals of Internal Medicine, 65, 487-495.","journal-title":"Annals of Internal Medicine"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1093\/jnci\/37.3.369","article-title":"Urban or rural residence and histologic type distribution in 21,000 childhood leukemia deaths in the United States 1950-59","volume":"37","author":"Stark, C.R.; Oleinick, A.","year":"1966","unstructured":"Stark, C. R., and Oleinick, A. (1966). Urban or rural residence and histologic type distribution in 21,000 childhood leukemia deaths in the United States 1950-59. Journal of the National Cancer Institute, 37, 369-379.","journal-title":"Journal of the National Cancer Institute"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1542\/peds.57.1.111","article-title":"The iduronidase-deficient mucopolysaccharidoses: clinical and roentgenographic features","volume":"57","author":"Stevenson, R.E.; Howell, R.R.; McKusick, V.A.; Suskind, R.; Hanson, J.W.; Elliott, D.E.; Neufeld, E.F.","year":"1976","unstructured":"Stevenson, R. E., Howell, R. R., McKusick, V. A., Suskind, R., Hanson, J. W., Elliott, D. E., and Neufeld, E. F. (1976). The iduronidase-deficient mucopolysaccharidoses: clinical and roentgenographic features. Pediatrics, 57, 111-122.","journal-title":"Pediatrics"},{"key":"ref_13","first-page":"65","article-title":"Fanconi's anemia: inherited susceptibility to chromosome breakage in various tissue","author":"Swift, M.R.; Hirschhorn, K.","year":"1966","unstructured":"Swift, M. R., and Hirschhorn, K. (1966). Fanconi's anemia: inherited susceptibility to chromosome breakage in various tissue. Annals ofInternal Medicine, 65,496-503.","journal-title":"Annals ofInternal Medicine"},{"key":"ref_14","article-title":"Sibs with microcephaly, occipital encephalocele, and polycystic kidneys were first reported by Meckel in 1822. Both patients had, in addition, polydactyly and cleft palate. Numerous case reports in both this and the last centuries have appeared, including a review by Gruber (1934), who added one case of his own observation and proposed the name dysencephalia splanchno-cystica","author":"Hsia et al.","year":"1969","unstructured":"Sibs with microcephaly, occipital encephalocele, and polycystic kidneys were first reported by Meckel in 1822. Both patients had, in addition, polydactyly and cleft palate. Numerous case reports in both this and the last centuries have appeared, including a review by Gruber (1934), who added one case of his own observation and proposed the name dysencephalia splanchno-cystica. Opitz and Howe (1969) described a further case and called the disorder Meckel's syndrome; they suggested that it was inherited in an autosomal recessive manner. Hsia et al. (1971)","journal-title":"Opitz and Howe; described a further case and called the disorder Meckel's syndrome; they suggested that it was inherited in an autosomal recessive manner"},{"key":"ref_15","article-title":"reported 7 patients including 2 pairs of concordant monozygotic twins in 1 family and 3 sibs in another","year":"1973","unstructured":"reported 7 patients including 2 pairs of concordant monozygotic twins in 1 family and 3 sibs in another. Fried (1973) has drawn attention to the relatively high prevalence among oriental Jews. Sibs, born to consanguineous Pakistani parents, are presented here; they provide additional supporting evidence for autosomal recessive inheritance.","journal-title":"Fried; has drawn attention to the relatively high prevalence among oriental Jews. Sibs, born to consanguineous Pakistani parents, are presented here; they provide additional supporting evidence for autosomal recessive inheritance"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.15.3.239","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:57:43Z","timestamp":1760763463000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.15.3.239"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1978,6]]},"references-count":15,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1978,6,1]]},"published-print":{"date-parts":[[1978,6]]}},"alternative-id":["10.1136\/jmg.15.3.239"],"URL":"https:\/\/doi.org\/10.1136\/jmg.15.3.239","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1978,6]]}}}