{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T22:40:36Z","timestamp":1760740836187,"version":"build-2065373602"},"reference-count":13,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1976,4]]},"abstract":"<jats:p>Assay of alpha-L-iduronidase in peripheral leucocytes is a rapid and simple diagnostic aid in mucopolysaccharidosis I. The mean value for heterozygotes is one-half the value of normal controls, but overlap between the two groups occurs. Use of this assay may be helpful in genetic counselling of selected couples.<\/jats:p>","DOI":"10.1136\/jmg.13.2.149","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"149-151","source":"Crossref","is-referenced-by-count":9,"title":["Leucocyte values of alpha-L-iduronidase activity in mucopolysaccharidosis I."],"prefix":"10.1136","volume":"13","author":[{"given":"T E","family":"Kelly","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H A","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1976,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1203\/00006450-197505000-00007","article-title":"Prenatal diagnosis of type II glycogenosis (Pompe's disease) using michrochemical analyses","volume":"9","author":"Niermeijer, M.F.; Koster, J.F.; Jahodova, M.; Fernandes, J.; Heukels-Dully, M.J.; Galjaard, H.","year":"1975","unstructured":"Niermeijer, M. F., Koster, J. F., Jahodova, M., Fernandes, J., Heukels-Dully, M. J. and Galjaard, H. (1975). Prenatal diagnosis of type II glycogenosis (Pompe's disease) using michrochemical analyses. Paediatric Research, 9, 498-503.","journal-title":"Paediatric Research"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"2219","DOI":"10.1055\/s-0028-1108114","article-title":"Pranatale diagnose einer Glykogenose Typ II (Pompe) mit nachfolgender Interruptio","volume":"99","author":"Schaub, J.; Osang, M.; von Bassewitz, D.B.; Grote, W.; Terinde, R.; Lombeck, I.; Bremer, H.J.","year":"1974","unstructured":"Schaub, J., Osang, M., von Bassewitz, D. B., Grote, W., Terinde, R., Lombeck, I. and Bremer, H. J. (1974). Pranatale diagnose einer Glykogenose Typ II (Pompe) mit nachfolgender Interruptio. Deutsche Medizinishe Wochenschrift, 99, 2219-2222.","journal-title":"Deutsche Medizinishe Wochenschrift"},{"key":"ref_3","article-title":"Faed for allowing us to study and report Case 2; Mr","volume-title":"for technical assistance, the Department of Health and Social Security and the Spastics Society for support","author":"thank Dr M, We","unstructured":"We thank Dr M. Faed for allowing us to study and report Case 2; Mr A. W. Babarik and Mrs A. R. Grant for technical assistance, the Department of Health and Social Security and the Spastics Society for support."},{"key":"ref_4","article-title":"Mucopolysaccharidosis I has been classified on clinical grounds into three subtypes: MPS-IH (Hurler syndrome), MPS-IS (Scheie syndrome), and MPS-IH\/S (Hurler-Scheie compound) (McKusick et al","volume-title":"The deficient lysosomal enzyme in MPS-I is a-L-iduronidase","author":"Matalon, Cifonelli; Dorfman","year":"1972","unstructured":"Mucopolysaccharidosis I has been classified on clinical grounds into three subtypes: MPS-IH (Hurler syndrome), MPS-IS (Scheie syndrome), and MPS-IH\/S (Hurler-Scheie compound) (McKusick et al, 1972). The deficient lysosomal enzyme in MPS-I is a-L-iduronidase (Bach et al, 1972; Matalon, Cifonelli, and Dorfman, 1971). The three subtypes are indistinguishable by enzyme assay and radioactive sulphate kinetics in cultured fibroblasts and quantitative analysis of mucopolysacchariduria."},{"key":"ref_5","article-title":"Material and methods Leucocytes were separated from 10 ml heparinized whole blood using dextran (Skoog and Beck, 1956). Fibroblasts were harvested on the seventh day of subculture. Assay of a-L-iduronidase employed 0.01 M phenyl-iduronide,* as previously described","volume-title":"Values are expressed as nanomoles phenol liberated per mg protein in 18 hours at ambient temperature. Radioactive sulphate incorporation by cultured fibroblasts and cross correction studies were done using the methods of Fratantoni","author":"Hall, and Neufeld (1968a, b).","year":"1973","unstructured":"Material and methods Leucocytes were separated from 10 ml heparinized whole blood using dextran (Skoog and Beck, 1956). Fibroblasts were harvested on the seventh day of subculture. Assay of a-L-iduronidase employed 0.01 M phenyl-iduronide,* as previously described (Hall and Neufeld, 1973). Values are expressed as nanomoles phenol liberated per mg protein in 18 hours at ambient temperature. Radioactive sulphate incorporation by cultured fibroblasts and cross correction studies were done using the methods of Fratantoni, Hall, and Neufeld (1968a, b)."},{"key":"ref_6","article-title":"Leucocyte assay of a-L-iduronidase using phenyliduronide does not give clear separation of heterozygotes and controls. A similar overlap was obtained in the two groups when ct-L-iduronidase was assayed in cultured fibroblasts","volume-title":"Because of the rarity of MPS I and the lack of ethnic concentration, prospective screening of the general population for carriers is impractical at the present time. Assay of leucocyte ot-Liduronidase may prove helpful in selected families seeking genetic counselling","year":"1973","unstructured":"Leucocyte assay of a-L-iduronidase using phenyliduronide does not give clear separation of heterozygotes and controls. A similar overlap was obtained in the two groups when ct-L-iduronidase was assayed in cultured fibroblasts (Hall and Neufeld, 1973). Because of the rarity of MPS I and the lack of ethnic concentration, prospective screening of the general population for carriers is impractical at the present time. Assay of leucocyte ot-Liduronidase may prove helpful in selected families seeking genetic counselling."},{"key":"ref_7","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 of the United States of America, 69, 2048.","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"ref_8","first-page":"669","article-title":"The defect in Hurler's and Hunter's syndromes, faulty degradation of mucopolysaccharide","volume":"60","author":"Fratantoni, J.C.; Hall, C.W.; Neufeld, E.F.","year":"1968","unstructured":"Fratantoni, J. C., Hall, C. W., and Neufeld, E. F. (1968a). The defect in Hurler's and Hunter's syndromes, faulty degradation of mucopolysaccharide. Proceedings of the National Academy of Sciences of the United States of America, 60, 669.","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"ref_9","first-page":"570","article-title":"Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts","volume":"162","author":"Fratantoni, J.C.; Hall, C.W.; Neufeld, E.F.","year":"1968","unstructured":"Fratantoni, J. C., Hall, C. W., and Neufeld, E. F. (1968b). Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Sc:ence, 162, 570.","journal-title":"Sc:ence"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1016\/0003-9861(73)90577-8","article-title":"a-L-iduronidase activity in cultured skin fibroblasts and amniotic fluid cells","volume":"158","author":"Hall, C.W.; Neufeld, E.F.","year":"1973","unstructured":"Hall, C. W. and Neufeld, E. F. (1973). a-L-iduronidase activity in cultured skin fibroblasts and amniotic fluid cells. Archives of Biochemistry and Biophysics, 158, 817-821.","journal-title":"Archives of Biochemistry and Biophysics"},{"key":"ref_11","first-page":"993","article-title":"Allelism, non-allelism and genetic compounds among the mucopolysaccharidosis: hypotheses","volume":"1","author":"McKusick, V.A.; Howell, R.R.; Hussels, I.E.; Neufeld, E.F.; Stevenson, R.","year":"1972","unstructured":"McKusick, V. A., Howell, R. R., Hussels, I. E., Neufeld, E. F., and Stevenson, R. (1972). Allelism, non-allelism and genetic compounds among the mucopolysaccharidosis: hypotheses. Lancet, 1, 993.","journal-title":"Lancet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1016\/0006-291X(71)90108-2","article-title":"a-Liduronidase in cultured human fibroblasts and liver","volume":"42","author":"Matalon, R.; Cifonelli, J.A.; Dorfman, A.","year":"1971","unstructured":"Matalon, R., Cifonelli, J. A., and Dorfman, A. (1971). a-Liduronidase in cultured human fibroblasts and liver. Biochemical and Biophysical Research Communications, 42, 340-345.","journal-title":"Biochemical and Biophysical Research Communications"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1182\/blood.V11.5.436.436","article-title":"Studies on the fibrinogen, dextran and phytohemagglutinin methods of isolating leukocytes","volume":"11","author":"Skoog, W.A.; Beck, W.S.","year":"1956","unstructured":"Skoog, W. A. and Beck, W. S. (1956). Studies on the fibrinogen, dextran and phytohemagglutinin methods of isolating leukocytes. Blood, 11, 436.","journal-title":"Blood"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.13.2.149","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T22:03:54Z","timestamp":1760738634000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.13.2.149"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1976,4]]},"references-count":13,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1976,4,1]]},"published-print":{"date-parts":[[1976,4]]}},"alternative-id":["10.1136\/jmg.13.2.149"],"URL":"https:\/\/doi.org\/10.1136\/jmg.13.2.149","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1976,4]]}}}