Full text
PDF









Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- BAIKIE A. G., LODER P. B., DEGRUCHY G. C., PITT D. B. PHOSPHOHEXOKINASE ACTIVITY OF ERYTHROCYTES IN MONGOLISM: ANOTHER POSSIBLE MARKER FOR CHROMOSOME 21. Lancet. 1965 Feb 20;1(7382):412–414. doi: 10.1016/s0140-6736(65)90007-3. [DOI] [PubMed] [Google Scholar]
- BEUTLER E., GOLDENBURG E. W., OHNO S., YETTRA M. CHROMOSOME-21 AND PAROXYSMAL NOCTURNAL HEMOGLOBINURIA. Blood. 1964 Aug;24:160–163. [PubMed] [Google Scholar]
- BREWER G. J., POWELL R. D., SWANSON S. H., ALVING A. S. HEMOLYTIC EFFECT OF PRIMAQUINE. XVII. HEXOKINASE ACTIVITY OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE-DEFICIENT AND NORMAL ERYTHROCYTES. J Lab Clin Med. 1964 Oct;64:601–612. [PubMed] [Google Scholar]
- Bartels H., Kruse K., Tolksdorf M. Enzymes in Down's syndrome. Lancet. 1968 Apr 13;1(7546):820–820. doi: 10.1016/s0140-6736(68)92266-6. [DOI] [PubMed] [Google Scholar]
- Bender K., Ritter H., Wolf U. Zur frage der Zuordnung von Genen zu bestimmten Autosomen des Menschen mit Hilfe von Chromosomenaberrationen. Humangenetik. 1967;4(2):85–103. doi: 10.1007/BF00291253. [DOI] [PubMed] [Google Scholar]
- Carter N. D., Fildes R. A., Fitch L. I., Parr C. W. Genetically determined electrophoretic variations of human phosphogluconate dehydrogenase. Acta Genet Stat Med. 1968;18(2):109–122. doi: 10.1159/000152126. [DOI] [PubMed] [Google Scholar]
- DONNELL G. N., NG W. G., BERGREN W. R., MELNYK J., KOCH R. ENHANCEMENT OF ERYTHROCYTE-GALACTOKINASE ACTIVITY IN LANGDON-DOWN TRISOMY. Lancet. 1965 Mar 6;1(7384):553–553. doi: 10.1016/s0140-6736(65)92057-x. [DOI] [PubMed] [Google Scholar]
- GLOCK G. E., McLEAN P. Further studies on the properties and assay of glucose 6-phosphate dehydrogenase and 6-phosphogluconate dehydrogenase of rat liver. Biochem J. 1953 Oct;55(3):400–408. doi: 10.1042/bj0550400. [DOI] [PMC free article] [PubMed] [Google Scholar]
- GOLDBERG C. A. A new method for starch gel electrophoresis of human hemoglobins, with special reference to the determination of hemoglobin A2. Clin Chem. 1958 Dec;4(6):484–495. [PubMed] [Google Scholar]
- Gerald P. S., Warner S., Singer J. D., Corcoran P. A., Umansky I. A ring D chromosome and anomalous inheritance of haptoglobin type. J Pediatr. 1967 Feb;70(2):172–179. doi: 10.1016/s0022-3476(67)80411-6. [DOI] [PubMed] [Google Scholar]
- HSIA D. Y., INOUYE T., WONG P., SOUTH A. STUDIES ON GALACTOSE OXIDATION IN DOWN'S SYNDROME. N Engl J Med. 1964 May 21;270:1085–1088. doi: 10.1056/NEJM196405212702103. [DOI] [PubMed] [Google Scholar]
- HUENNEKENS F. M., CAFFREY R. W., BASFORD R. E., GABRIO B. W. Erythrocyte metabolism. IV. Isolation and properties of methemoglobin reductase. J Biol Chem. 1957 Jul;227(1):261–272. [PubMed] [Google Scholar]
- KRIVIT W., GOOD R. A. The simultaneous occurrence of leukemia and mongolism; report of four cases. AMA J Dis Child. 1956 Mar;91(3):218–222. doi: 10.1001/archpedi.1956.02060020220002. [DOI] [PubMed] [Google Scholar]
- MALAMOS B., FESSAS P., STAMATOYANNOPOULOS G. Types of thalassaemia-trait carriers as revealed by a study of their incidence in Greece. Br J Haematol. 1962 Jan;8:5–14. doi: 10.1111/j.1365-2141.1962.tb06489.x. [DOI] [PubMed] [Google Scholar]
- MELLMAN W. J., OSKI F. A., TEDESCO T. A., MACIERA-COELHO A., HARRIS H. LEUCOCYTE ENZYMES IN DOWN'S SYNDROME. Lancet. 1964 Sep 26;2(7361):674–675. doi: 10.1016/s0140-6736(64)92483-3. [DOI] [PubMed] [Google Scholar]
- MITTWOCH U. Some observations on the leucocytes in mongolism. J Ment Defic Res. 1957 Jul;1(1):26–32. doi: 10.1111/j.1365-2788.1957.tb00278.x. [DOI] [PubMed] [Google Scholar]
- MOORHEAD P. S., NOWELL P. C., MELLMAN W. J., BATTIPS D. M., HUNGERFORD D. A. Chromosome preparations of leukocytes cultured from human peripheral blood. Exp Cell Res. 1960 Sep;20:613–616. doi: 10.1016/0014-4827(60)90138-5. [DOI] [PubMed] [Google Scholar]
- Marks P. A., Johnson A. B., Hirschberg E. EFFECT OF AGE ON THE ENZYME ACTIVITY IN ERYTHROCYTES. Proc Natl Acad Sci U S A. 1958 Jun;44(6):529–536. doi: 10.1073/pnas.44.6.529. [DOI] [PMC free article] [PubMed] [Google Scholar]
- NG W. G., BERGEN W. R., DONNELL G. N. GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE ASSAY BY USE OF RADIOACTIVE GALACTOSE-1-PHOSPHATE. Clin Chim Acta. 1964 Oct;10:337–343. doi: 10.1016/0009-8981(64)90064-6. [DOI] [PubMed] [Google Scholar]
- Nadler H. L., Inouye T., Hsia D. Y. Enzymes in cultivated human fibroblasts derived from patients with autosomal trisomy syndromes. Am J Hum Genet. 1967 Mar;19(2):94–99. [PMC free article] [PubMed] [Google Scholar]
- Naiman J. L., Oski F. A., Mellman W. J. Phosphokinase activity of erythrocytes in mongolism. Lancet. 1965 Apr 10;1(7389):821–821. doi: 10.1016/s0140-6736(65)92994-6. [DOI] [PubMed] [Google Scholar]
- PORTER I. H., BOYER S. H., WATSON-WILLIAMS E. J., ADAM A., SZEINBERG A., SINISCALCO M. VARIATION OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE IN DIFFERENT POPULATIONS. Lancet. 1964 Apr 25;1(7339):895–899. doi: 10.1016/s0140-6736(64)91626-5. [DOI] [PubMed] [Google Scholar]
- Renwick J. H. Progress in mapping human autosomes. Br Med Bull. 1969 Jan;25(1):65–73. doi: 10.1093/oxfordjournals.bmb.a070673. [DOI] [PubMed] [Google Scholar]
- Rosner F., Ong B. H., Paine R. S., Mahanand D. Biochemical differentiation of trisomic Down's syndrome (mongolism) from that due to translocation. N Engl J Med. 1965 Dec 16;273(25):1356–1361. doi: 10.1056/NEJM196512162732503. [DOI] [PubMed] [Google Scholar]
- SLEIN M. W., CORI G. T., CORI C. F. A comparative study of hexokinase from yeast and animal tissues. J Biol Chem. 1950 Oct;186(2):763–780. [PubMed] [Google Scholar]
- STALDER G. R., BUHLER E. M., BUHLER U. K., EGLI F., RICHTERICH R., COLOMBO J. P. ACID-PHOSPHATASE ACTIVITY IN PARTIAL TRANSLOCATION-TRISOMY. Lancet. 1965 Apr 3;1(7388):768–768. doi: 10.1016/s0140-6736(65)92134-3. [DOI] [PubMed] [Google Scholar]
- Schuppisser R., Joss E., Richterich R. Enzyme bei Trisomie-21 (Mongolismus) Schweiz Med Wochenschr. 1967 Nov 18;97(46):1540–1542. [PubMed] [Google Scholar]
- TANAKA K. R., VALENTINE W. N., MIWA S. Pyruvate kinase (PK) deficiency hereditary nonspherocytic hemolytic anemia. Blood. 1962 Mar;19:267–295. [PubMed] [Google Scholar]
- TARLOV A. R., KELLERMEYER R. W. The hemolytic effect of primaquine. XI. Decreased catalase activity in primaquine-sensitive erythrocytes. J Lab Clin Med. 1961 Aug;58:204–216. [PubMed] [Google Scholar]
- TRUBOWITZ S., KIRMAN D., MASEK B. The leucocyte alkaline phosphatase in mongolism. Lancet. 1962 Sep 8;2(7254):486–487. doi: 10.1016/s0140-6736(62)90344-6. [DOI] [PubMed] [Google Scholar]
- WEBER W. W., MITTWOCH U., DELHANTY J. D. LEUCOCYTE ALKALINE PHOSPHATASE IN KLINEFELTER'S SYNDROME. J Med Genet. 1965 Jun;2(2):112–115. doi: 10.1136/jmg.2.2.112. [DOI] [PMC free article] [PubMed] [Google Scholar]
- ZINKHAM W. H., LENHARD R. E., Jr, CHILDS B. A deficiency of glucose-6-phosphate dehydrogenase activity in erythrocytes from patients with favism. Bull Johns Hopkins Hosp. 1958 Apr;102(4):169–175. [PubMed] [Google Scholar]