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THE ASSAY OF GALACTOKINASE AND GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN HUMAN ERYTHROCYTES. A PRESUMED TEST FOR HETEROZYGOUS CARRIERS OF THE GALACTOSEMIC DEFECT.
J Exp Med. 1963 Sep 01; 118:359-70.JE

Abstract

A simple, rapid, and direct method for measuring the activities of the galactokinase and Gal-1-P uridyl transferase enzymes in human erythrocytes is presented. The method has been applied to measurement of enzyme activities in a group of 37 presumably normal persons, 3 patients with galactosemia, 6 known heterozygous carriers of the defect, and 9 relatives of carriers. In every case the test unambiguously identified the individual's status as normal, heterozygotic carrier, or homozygously defective. Use of the test in genetic counseling and genetic epidemological studies is discussed.

Authors

No affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

14077997

Citation

ROBINSON, A. "THE ASSAY of GALACTOKINASE and GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY in HUMAN ERYTHROCYTES. a PRESUMED TEST for HETEROZYGOUS CARRIERS of the GALACTOSEMIC DEFECT." The Journal of Experimental Medicine, vol. 118, 1963, pp. 359-70.
ROBINSON A. THE ASSAY OF GALACTOKINASE AND GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN HUMAN ERYTHROCYTES. A PRESUMED TEST FOR HETEROZYGOUS CARRIERS OF THE GALACTOSEMIC DEFECT. J Exp Med. 1963;118:359-70.
ROBINSON, A. (1963). THE ASSAY OF GALACTOKINASE AND GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN HUMAN ERYTHROCYTES. A PRESUMED TEST FOR HETEROZYGOUS CARRIERS OF THE GALACTOSEMIC DEFECT. The Journal of Experimental Medicine, 118, 359-70.
ROBINSON A. THE ASSAY of GALACTOKINASE and GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY in HUMAN ERYTHROCYTES. a PRESUMED TEST for HETEROZYGOUS CARRIERS of the GALACTOSEMIC DEFECT. J Exp Med. 1963 Sep 1;118:359-70. PubMed PMID: 14077997.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - THE ASSAY OF GALACTOKINASE AND GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN HUMAN ERYTHROCYTES. A PRESUMED TEST FOR HETEROZYGOUS CARRIERS OF THE GALACTOSEMIC DEFECT. A1 - ROBINSON,A, PY - 1963/9/1/pubmed PY - 1963/9/1/medline PY - 1963/9/1/entrez KW - CARRIER STATE KW - ENZYME TESTS KW - ERYTHROCYTES KW - GALACTOSEMIA KW - PHOSPHOTRANSFERASES SP - 359 EP - 70 JF - The Journal of experimental medicine JO - J Exp Med VL - 118 N2 - A simple, rapid, and direct method for measuring the activities of the galactokinase and Gal-1-P uridyl transferase enzymes in human erythrocytes is presented. The method has been applied to measurement of enzyme activities in a group of 37 presumably normal persons, 3 patients with galactosemia, 6 known heterozygous carriers of the defect, and 9 relatives of carriers. In every case the test unambiguously identified the individual's status as normal, heterozygotic carrier, or homozygously defective. Use of the test in genetic counseling and genetic epidemological studies is discussed. SN - 0022-1007 UR - https://www.unboundmedicine.com/medline/citation/14077997/THE_ASSAY_OF_GALACTOKINASE_AND_GALACTOSE_1_PHOSPHATE_URIDYL_TRANSFERASE_ACTIVITY_IN_HUMAN_ERYTHROCYTES__A_PRESUMED_TEST_FOR_HETEROZYGOUS_CARRIERS_OF_THE_GALACTOSEMIC_DEFECT_ L2 - https://rupress.org/jem/article-lookup/doi/10.1084/jem.118.3.359 DB - PRIME DP - Unbound Medicine ER -