{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T05:10:50Z","timestamp":1759727450186,"version":"build-2065373602"},"reference-count":27,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1975,9]]},"abstract":"<jats:p>The specific activities of lysosomal hydrolases in cultured skin fibroblasts and amniotic fluid cells showed wide and unpredictable variations between cultures, which may lead to difficulty in differentiating normal, heterozygous, and homozygous cells. However, the variability for a given culture was similar for all enzymes assayed, so that a clearer differentiation of a relative deficiency of a given enzyme could be obtained by expressing its activity in ratio to that of another enzyme. Activity ratios were particularly useful in the evaluation of enzyme levels in cultured amniotic fluid cells. Results of their application to tests of pregnancies at risk for metachromatic leucodystrophy, Krabbe's leucodystrophy, GM1-gangliosidosis, and GM2-gangliosidosis (Sandhoff variant) are presented.<\/jats:p>","DOI":"10.1136\/jmg.12.3.224","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"224-229","source":"Crossref","is-referenced-by-count":23,"title":["Variability of acid hydrolase activities in cultured skin fibroblasts and amniotic fluid cells."],"prefix":"10.1136","volume":"12","author":[{"given":"E","family":"Young","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Willcox","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A E","family":"Whitfield","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A D","family":"Patrick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1975,9,1]]},"reference":[{"key":"ref_1","first-page":"62","article-title":"B-Glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease","volume":"23","author":"Beutler, E.; Kuhl, W.; Trinidad, F.; Teplitz, R.; Nadler, H.","year":"1971","unstructured":"Beutler, E., Kuhl, W., Trinidad, F., Teplitz, R., and Nadler, H. (1971). B-Glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease. American Journal of Human Genetics, 23, 62-66.","journal-title":"American Journal of Human Genetics"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1111\/j.1471-4159.1969.tb06849.x","article-title":"Cerebroside galactosidase: a method for determination and a comparison with other lysosomal enzymes in developing rat brain","volume":"16","author":"Bowen, D.M.; Radin, N.S.","year":"1969","unstructured":"Bowen, D. M. and Radin, N. S. (1969). Cerebroside galactosidase: a method for determination and a comparison with other lysosomal enzymes in developing rat brain. Journal of Neurochemistry, 16, 501-511.","journal-title":"Journal of Neurochemistry"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1136\/adc.48.10.775","article-title":"Late onset GM2-gangliosidosis. Clinical, pathological and biochemical studies on eight patients","volume":"48","author":"Brett, E.M.; Ellis, R.B.; Haas, L.; Ikonne, J.U.; Lake, B.D.; Patrick, A.D.; Stephens, R.","year":"1973","unstructured":"Brett, E. M., Ellis, R. B., Haas, L., Ikonne, J. U., Lake, B. D., Patrick, A. D., and Stephens, R. (1973). Late onset GM2-gangliosidosis. Clinical, pathological and biochemical studies on eight patients. Archives of Disease in Childhood, 48, 775-785.","journal-title":"Archives of Disease in Childhood"},{"key":"ref_4","first-page":"82","article-title":"Biochemical studies on amniotic fluid cells. In Antenatal Diagnosis of Genetic Disease","author":"Brock, D.J.H.","year":"1973","unstructured":"Brock, D. J. H. (1973). Biochemical studies on amniotic fluid cells. In Antenatal Diagnosis of Genetic Disease, ed. by A. E. H. Emery, pp. 82-112. Churchill Livingstone, London."},{"key":"ref_5","first-page":"713","article-title":"Lysosomal enzyme levels in human amniotic fluid cells in tissue culture","volume":"13","author":"Butterworth, J.; Sutherland, G.R.; Broadhead, D.M.; Bain, A.D.","year":"1973","unstructured":"Butterworth, J., Sutherland, G. R., Broadhead, D. M., and Bain, A. D. (1973). Lysosomal enzyme levels in human amniotic fluid cells in tissue culture. I. a-Glucosidase and,-glucosidase. Life Sciences, 13, 713-722.","journal-title":"I. a-Glucosidase and,-glucosidase. Life Sciences"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1002\/jcp.1040690302","article-title":"Enzyme activity during the growth and ageing of human cells in vitro","volume":"69","author":"Cristofalo, V.J.; Parris, N.; Kritchevsky, D.","year":"1967","unstructured":"Cristofalo, V. J., Parris, N., and Kritchevsky, D. (1967). Enzyme activity during the growth and ageing of human cells in vitro. Journal of Cellular Physiology, 69, 263-272.","journal-title":"Journal of Cellular Physiology"},{"key":"ref_7","first-page":"1144","article-title":"Prenatal diagnosis of Tay-Sachs disease","volume":"2","author":"Ellis, R.B.; Ikonne, J.U.; Patrick, A.D.; Stephens, R.; P, Willcox","year":"1973","unstructured":"Ellis, R. B., Ikonne, J. U., Patrick, A. D., Stephens, R., and Willcox P. (1973). Prenatal diagnosis of Tay-Sachs disease. Lancet, 2, 1144-1145.","journal-title":"Lancet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1016\/0002-9378(72)90608-4","article-title":"Cultivated epithelial-like cells and fibroblasts from amniotic fluid: their relationship to enzymatic and cytologic analysis","volume":"114","author":"Gerbie, A.B.; Melancon, S.B.; Ryan, C.; Nadler, H.L.","year":"1972","unstructured":"Gerbie, A. B., Melancon, S. B., Ryan, C., and Nadler, H. L. (1972). Cultivated epithelial-like cells and fibroblasts from amniotic fluid: their relationship to enzymatic and cytologic analysis. American Journal of Obstetrics and Gynecology, 114, 314-320.","journal-title":"American Journal of Obstetrics and Gynecology"},{"key":"ref_9","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_10","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1007\/BF00393991","article-title":"Ageing of human fibroblasts in culture: Studies on enzymes and mutation","volume":"16","author":"Holliday, R.","year":"1972","unstructured":"Holliday, R. (1972). Ageing of human fibroblasts in culture: Studies on enzymes and mutation. Humangenetik, 16, 83-86.","journal-title":"Humangenetik"},{"key":"ref_11","first-page":"265","article-title":"Fibroblasts en culture au cours de mucopolysaccharidoses: Influence du serum sur la metachromasie","volume":"11","author":"Hors-Cayla, M.C.; Maroteaux, P.; de Grouchy, J.","year":"1968","unstructured":"Hors-Cayla, M. C., Maroteaux, P. and de Grouchy, J. (1968). Fibroblasts en culture au cours de mucopolysaccharidoses: Influence du serum sur la metachromasie. Annales de Genitique, 11, 265-266.","journal-title":"Annales de Genitique"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1336","DOI":"10.1056\/NEJM197006112822403","article-title":"Infantile metachromatic leucodystrophy: Heterozygote detection in skin fibroblasts and possible applications to intrauterine diagnosis","volume":"282","author":"Kaback, M.M.; Howell, R.R.","year":"1970","unstructured":"Kaback, M. M. and Howell, R. R. (1970). Infantile metachromatic leucodystrophy: Heterozygote detection in skin fibroblasts and possible applications to intrauterine diagnosis. New England Journal of Medicine, 282, 1336-1340.","journal-title":"New England Journal of Medicine"},{"key":"ref_13","first-page":"81","article-title":"Morphological and enzymological considerations in antenatal diagnosis","author":"Kaback, M. M.; Leonard, C. 0","year":"1972","unstructured":"Kaback, M. M. and Leonard, C. 0. (1972). Morphological and enzymological considerations in antenatal diagnosis. In Antenatal Diagnosis, ed. by A. Dorfman, pp. 81-94. University of Chicago Press, Chicago and London."},{"key":"ref_14","first-page":"194","article-title":"Effect of different sera on mucopolysaccharide synthesis in fibroblast cultures","volume":"8","author":"Kittlick, P.D.; Neuport, G.; Lumkemann, U.","year":"1973","unstructured":"Kittlick, P. D., Neuport, G, and Lumkemann, U. (1973). Effect of different sera on mucopolysaccharide synthesis in fibroblast cultures. Experimentelle Pathologie, 8, 194-204.","journal-title":"Experimentelle Pathologie"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1038\/226553a0","article-title":"Deficiency of arylsulphatase A in leucocytes and skin fibroblasts in juvenile metachromatic leucodystrophy","volume":"226","author":"Leroy, J.G.; Dumon, J.; Radermecker, J.","year":"1970","unstructured":"Leroy, J. G., Dumon, J., and Radermecker, J. (1970). Deficiency of arylsulphatase A in leucocytes and skin fibroblasts in juvenile metachromatic leucodystrophy. Nature, 226, 553-554.","journal-title":"Nature"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/S0021-9258(19)52451-6","article-title":"Protein measurement with the Folin phenol reagent","volume":"193","year":"1951","unstructured":"Lowry, 0. H., Rosenbrough, N. J., Farr, A. L., and Randall, R. J. (1951). Protein measurement with the Folin phenol reagent. Jrournal of Biological Chemistry, 193, 265-275.","journal-title":"Jrournal of Biological Chemistry"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1016\/0024-3205(72)90219-6","article-title":"Lysosomal enzyme variations in cultured normal skin fibroblasts","volume":"11","author":"Milunsky, A.; Spielvogel, C.; Kanfer, J.N.","year":"1972","unstructured":"Milunsky, A., Spielvogel, C., and Kanfer, J. N. (1972). Lysosomal enzyme variations in cultured normal skin fibroblasts. Life Sciences, 11, 1101-1107.","journal-title":"Life Sciences"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1007\/BF00284856","article-title":"Transport and storage of amniotic fluid samples for prenatal diagnosis of metabolic diseases","volume":"20","author":"Niermeijer, M.F.; Halley, D.; Sachs, E.; Tichelaar-Klepper, C.; Garver, K.L.","year":"1973","unstructured":"Niermeijer, M. F., Halley, D., Sachs, E., Tichelaar-Klepper, C., and Garver, K. L. (1973). Transport and storage of amniotic fluid samples for prenatal diagnosis of metabolic diseases. Humangenetik, 20, 175-178.","journal-title":"Humangenetik"},{"key":"ref_19","first-page":"55","article-title":"Ganglioside GM2 storage diseases: Hexosaminidase deficiencies in cultured fibroblasts","volume":"23","author":"Okada, S.; Veath, M.L.; Leroy, J.; O'Brien, J.S.","year":"1971","unstructured":"Okada, S., Veath, M. L., Leroy, J., and O'Brien, J. S. (1971). Ganglioside GM2 storage diseases: Hexosaminidase deficiencies in cultured fibroblasts. American J'ournal of Human Genetics, 23, 55-61.","journal-title":"American J'ournal of Human Genetics"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1002\/jcp.1040710205","article-title":"The influence of progressive growth on the specific catalase activity of human diploid cell strains","volume":"71","author":"Pan, Y.-L.; Krooth, R.S.","year":"1968","unstructured":"Pan, Y.-L. and Krooth, R. S. (1968). The influence of progressive growth on the specific catalase activity of human diploid cell strains. Journal of Cellular Physiology, 71, 151-160.","journal-title":"Journal of Cellular Physiology"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1016\/S0022-2275(20)39536-5","article-title":"A simplified assay method for galactosyl ceramide 6-galactosidase","volume":"12","author":"Radin, N.S.; Arora, R.C.","year":"1971","unstructured":"Radin, N. S. and Arora, R. C. (1971). A simplified assay method for galactosyl ceramide 6-galactosidase. Journal of Lipid Research, 12, 256-257.","journal-title":"Journal of Lipid Research"},{"key":"ref_22","first-page":"204","article-title":"Variation in UDPGlu:a-D-Gal-l-P uridyl transferase activity during growth of cultured fibroblasts","author":"Russell, J.D.","year":"1969","unstructured":"Russell, J. D. (1969). Variation in UDPGlu:a-D-Gal-l-P uridyl transferase activity during growth of cultured fibroblasts. In Galactosemia, ed. by D.Y.-Y. Hsia, pp. 204-212."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1016\/0014-4827(72)90308-4","article-title":"Effect of culture conditions on enzyme activities in cultivated human fibroblasts","volume":"71","author":"Ryan, C.A.; Lee, S.Y.; Nadler, H.L.","year":"1972","unstructured":"Ryan, C. A., Lee, S. Y., and Nadler, H. L. (1972). Effect of culture conditions on enzyme activities in cultivated human fibroblasts. Experimental Cell Research, 71, 388-392.","journal-title":"Experimental Cell Research"},{"key":"ref_24","first-page":"3","article-title":"Mucopolysaccharide storage diseases and lysosomal hydrolases in cultured fibroblasts","volume":"8","author":"Tandt, W.R.den; Schaberg, A.","year":"1973","unstructured":"Tandt, W. R. den and Schaberg, A. (1973). Mucopolysaccharide storage diseases and lysosomal hydrolases in cultured fibroblasts. Pathologia Europaea, 8, 3-12.","journal-title":"Pathologia Europaea"},{"key":"ref_25","first-page":"149","article-title":"Use of amniotic fluid and reliability of diagnostic procedures. In Early Diagnosis of Human Genetic Defects","volume-title":"Government Printing Office, Washington.","author":"Uhlendorf, B.W.","year":"1970","unstructured":"Uhlendorf, B. W. (1970). Use of amniotic fluid and reliability of diagnostic procedures. In Early Diagnosis of Human Genetic Defects, ed. by M. Harris, pp. 149-168. Government Printing Office, Washington."},{"key":"ref_26","author":"Young, E.P.; Ellis, R.B.; Patrick, A.D.","year":"1972","unstructured":"Young, E. P., Ellis, R. B., and Patrick, A. D. (1972). Leukocyte","journal-title":"Leukocyte"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1136\/adc.45.243.664","article-title":"Deficiency of acid esterase activity in Wolman's disease","volume":"45","author":"Young, E.P.; Patrick, A.D.","year":"1970","unstructured":"Young, E. P. and Patrick, A. D. (1970). Deficiency of acid esterase activity in Wolman's disease. Archives of Disease in Childhood 45, 664-668.","journal-title":"Archives of Disease in Childhood"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.12.3.224","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:34:16Z","timestamp":1759725256000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.12.3.224"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1975,9]]},"references-count":27,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1975,9,1]]},"published-print":{"date-parts":[[1975,9]]}},"alternative-id":["10.1136\/jmg.12.3.224"],"URL":"https:\/\/doi.org\/10.1136\/jmg.12.3.224","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1975,9]]}}}