{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:40:05Z","timestamp":1760762405272,"version":"build-2065373602"},"reference-count":11,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1973,6]]},"abstract":"<jats:p>Cystathionine synthase activity was studied in skin fibroblasts from a mother with homocystinuria and her husband and newborn baby. Enzyme studies were also undertaken on a fibroblast cell line derived from amniotic fluid taken at 16 weeks' gestation. The enzyme activity was very low in the mother, within the normal range in the father, and at an intermediate level consistent with heterozygosity in the infant. The activity present in the amnion fibroblasts was similar to that found in the cell line cultured from the infant's skin biopsy.<\/jats:p>","DOI":"10.1136\/jmg.10.2.120","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"120-121","source":"Crossref","is-referenced-by-count":17,"title":["Tissue Culture Techniques as an Aid to Prenatal Diagnosis and Genetic Counselling in Homocystinuria"],"prefix":"10.1136","volume":"10","author":[{"given":"A. H.","family":"Bittles","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nina A. J.","family":"Carson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1973,6,1]]},"reference":[{"key":"ref_1","series-title":"of the Society for the Study of Inborn Errors of Metabolism","first-page":"284","article-title":"Homocystinuria (cystathionine synthase deficiency) trial of treatment with oral pyridoxine and a normal diet. In Inherited Disorders of Sulphur Metabolism","volume":"8","author":"Carson, N.A.J.","year":"1971","unstructured":"Carson, N. A. J. (1971). Homocystinuria (cystathionine synthase deficiency) trial of treatment with oral pyridoxine and a normal diet. In Inherited Disorders of Sulphur Metabolism, N. A. J. Carson and D. N. Raine, pp. 284-288. Symposium No. 8 of the Society for the Study of Inborn Errors of Metabolism. Churchill Livingstone, Edinburgh."},{"key":"ref_2","first-page":"505","article-title":"Metabolic abnormalities detected in a survey of mentally backward individuals","volume-title":"Northern Ireland. Archives of Disease in Childhood","volume":"37","author":"Carson, N.A.J.; Neill, D.W.","year":"1962","unstructured":"Carson, N. A. J. and Neill, D. W. (1962). Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland. Archives of Disease in Childhood, 37, 505-513."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1126\/science.146.3645.785","article-title":"Homocystinuria due to cystathionine synthase deficiency: the mode of inheritance","volume":"146","author":"Finkelstein, J.D.; Mudd, S.H.; Irreverre, F.; Laster, L.","year":"1964","unstructured":"Finkelstein, J. D., Mudd, S. H., Irreverre, F., and Laster, L. (1964). Homocystinuria due to cystathionine synthase deficiency: the mode of inheritance. Science, 146, 785-787.","journal-title":"Science"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1016\/0006-291X(62)90114-6","article-title":"The identification of homocystine in the urine","volume":"9","author":"Gerritsen, T.; Vaughn, J.G.; Waisman, H.A.","year":"1962","unstructured":"Gerritsen, T., Vaughn, J. G., and Waisman, H. A. (1962). The identification of homocystine in the urine. Biochemical and Biophysical Research Communications, 9, 493-496.","journal-title":"Biochemical and Biophysical Research Communications"},{"article-title":"Protein measurement with the folin phenol reagent","year":"1951","key":"ref_5","unstructured":"Lowry, 0. H., Rosebrough, N. J., Farr, A. L., and Randal, R. J. (1951). Protein measurement with the folin phenol reagent"},{"key":"ref_6","series-title":"Inherited Disorders of Sulphur Metabolism","first-page":"204","article-title":"Homocystinuria: the known causes","author":"Mudd, S.H.","year":"1971","unstructured":"Mudd, S. H. (1971). Homocystinuria: the known causes. In Inherited Disorders of Sulphur Metabolism, edited by N. A. J. Carson and D. N. Raine, pp. 204-223. Symposium No. 8 of the Society for the Study of Inborn Errors of Metabolism. Churchill Livingstone, Edinburgh."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1443","DOI":"10.1126\/science.143.3613.1443","article-title":"Homocystinuria: an enzymatic defect","volume":"143","author":"Mudd, S.H.; Finkelstein, J.D.; Irreverre, F.; Laster, L.","year":"1964","unstructured":"Mudd, S. H., Finkelstein, J. D., Irreverre, F., and Laster, L. (1964). Homocystinuria: an enzymatic defect. Science, 143, 1443-1445.","journal-title":"Science"},{"key":"ref_8","first-page":"4382","article-title":"Transsulfuration in mammals. Micro assays and tissue distributions of three enzymes of the pathway. J7ournal of Biological","volume":"240","author":"Mudd, S.H.; Finkelstein, J.D.; Irreverre, F.; Laster, L.","year":"1965","unstructured":"Mudd, S. H., Finkelstein, J. D., Irreverre, F., and Laster, L. (1965), Transsulfuration in mammals. Micro assays and tissue distributions of three enzymes of the pathway. J7ournal of Biological Chemistry, 240, 4382-4392.","journal-title":"Chemistry"},{"key":"ref_9","author":"Ritchie, J.W.K.; Carson, N.A.J.","year":"1973","unstructured":"Ritchie, J. W. K. and Carson, N. A. J. (1973). Pregnancy and homocystinuria. (In press.)","journal-title":"Pregnancy and"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1203\/00006450-197203000-00007","article-title":"Studies of the mechanism of pyridoxine-responsive homocystinuria","volume":"6","author":"Seashore, M.R.; Durant, J.L.; Rosenberg, L.E.","year":"1972","unstructured":"Seashore, M. R., Durant, J. L., and Rosenberg, L. E. (1972). Studies of the mechanism of pyridoxine-responsive homocystinuria. Pediatric Research, 6, 187-196.","journal-title":"Pediatric Research"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1126\/science.160.3831.1007","article-title":"Cystathionine synthase in tissue culture derived from human skin: enzyme defect in homocystinuria","volume":"160","author":"Uhlendorf, B.W.; Mudd, S.H.","year":"1968","unstructured":"Uhlendorf, B. W. and Mudd, S. H. (1968). Cystathionine synthase in tissue culture derived from human skin: enzyme defect in homocystinuria. Science, 160, 1007-1009.","journal-title":"Science"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.10.2.120","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:14:07Z","timestamp":1760760847000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.10.2.120"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1973,6]]},"references-count":11,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1973,6,1]]},"published-print":{"date-parts":[[1973,6]]}},"alternative-id":["10.1136\/jmg.10.2.120"],"URL":"https:\/\/doi.org\/10.1136\/jmg.10.2.120","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1973,6]]}}}