Antenatal diagnosis of genetic disease / edited by A.E.H. Emery.

Date:
1973
Catalogue details

Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Credit: Antenatal diagnosis of genetic disease / edited by A.E.H. Emery. Source: Wellcome Collection.

    128/192 (page 110)
    110 ANTENATAL DIAGNOSIS OF GENETIC DISEASE Fujimoto, W. Y., Seegmiller, J. E., Uhlendorf, B. W. & Jacobson, С. В. (1968). Biochemical diagnosis of an X-linked disease in utero. Lancet ii, 511-512. Garrod, A. E. (1908). Inborn errors of metabolism. (Croonian Lectures.) Lancet ii, 1-7, 73-79, 142-148 & 214-220. Hollenberg, M. D., Kaback, M. M. & Kazazian, H. H. (1971). Adult haemoglobin synthesis by reticulocytes from the human fetus at midtrimester. Science, New York 174, 698-702. Howell, R. R., Kaback, M. M. & Brown, B. I. (1971). Type IV glycogen storage disease: branching enzyme deficiency in skin fibroblasts and possible hetero¬ zygote detection. Journal of Pediatrics 78, 638-642. Hsia, D. Y. Y. (1970). The detection of heterozygous carriers. Medical Clinics of North America 53, 857-874. Hudgson, P., Gardner-Medwin, D., Worsfold, M., Pennington, R. J. T. «& Walton, J. N. (1968). Adult myopathy in glycogen storage disease due to acid maltase deficiency. Brain 91, 435-443. Hug, G., Schubert, W. K. & Soukup, S. (1970). Prenatal diagnosis of type II glycogenosis. Lancet i, 1002. Jakubovic, A. (1971). Phenylalanine-hydroxylating system in the human fetus at different developmental ages. Biochimica et biophysica acta 237, 469-475. Kaback, M. M. & Howell, R. R. (1970). Infantile metachromatic leukodystrophy: heterozygote detection in skin fibroblasts and possible applications to intrau¬ terine diagnosis. New England Journal of Medicine 282, 1336-1340. Kaback, M. M. & Leonard, C. O. (1970). Control studies in the antenatal diagnosis of human genetic metabolic disorders. In Early diagnosis of Human Genetic Defects, pp. 291-310. Fogarty International Proceedings no. 6. Edited by M. Harris. Kelley, W. N., Greene, M. L., Rosenbloom, F. M., Henderson, J. F. & Seeg- miller, J. E. (1969). Hypoxanthine-guanine phosphoribosyltransferase defi¬ ciency in gout. Annals of Internal Medicine 70, 155-206. Kint, J. A. (1970). Fabry's disease, a-Galactosidase deficiency. Science, New York 167, 1268-1269. Kirkman, H. N. (1971). Cited by Littlefield, 1971. Littlefield, J. E. (1971). Problems in the use of cultured amniotic fluid cells for biochemical diagnosis. In 'Intrauterine diagnosis', pp. 15-17. Edited by D. Bergsma. Birth Defects Original Article Series, 7. McKusick, V. A. (1971). Mendelian Inheritance in Man, 3rd edn. Baltimore: Johns Hopkins Press. Matalón, A. & Dorfman, R. (1969). Acid mucopolysaccharides in cultured human fibroblasts. Lancet ii, 838-841. Melancon, S. В., Lee, S. Y. &. Nadler, H. L. (1971). Histidase activity in cultured amniotic fluid cells. Science, New York 173, 627-628. Milunsky, A., Littlefield, J. W., Kanfer, J. N., Kolodny, E. H., Shih, V. E. & Atkins, L. (1970). Prenatal genetic diagnosis. New England Journal of Medicine 283, 1370-1381, 1441-1447, 1498-1504. Nadler, H. L. (1968a). Antenatal detection of hereditary disorders. Pediatrics 42, 912-918. Nadler, H.L. (1968b). Patterns of enzyme development utilizing cultivated human fetal cells derived from amniotic fluid. Biochemical Genetics 2, 119-126. Nadler, H. L. (1969). Prenatal detection of genetic defects. Journal of Pediatrics 74, 132-143. Nadler, H. L. (1971). Indications for amniocentesis in the early prenatal detection of genetic disorders. In 'Intrauterine diagnosis', pp. 5-9. Edited by D. Bergsma. Birth Defects Original Article Series, 7. Nadler, H. L. & Egan, T. J. (1970). Deficiency of lysosomal acid phosphatase. A