THE ASSAY OF GALACTOKINASE AND GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN HUMAN ERYTHROCYTES : A PRESUMED TEST FOR HETEROZYGOUS CARRIERS OF THE GALACTOSEMIC DEFECT

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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...

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Detalles Bibliográficos
Autor principal: Robinson, Arthur
Formato: Texto
Lenguaje:English
Publicado: The Rockefeller University Press 1963
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2137650/
https://www.ncbi.nlm.nih.gov/pubmed/14077997
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author Robinson, Arthur
author_facet Robinson, Arthur
author_sort Robinson, Arthur
collection PubMed
description 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.
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spelling pubmed-21376502008-04-17 THE ASSAY OF GALACTOKINASE AND GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN HUMAN ERYTHROCYTES : A PRESUMED TEST FOR HETEROZYGOUS CARRIERS OF THE GALACTOSEMIC DEFECT Robinson, Arthur J Exp Med Article 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. The Rockefeller University Press 1963-09-01 /pmc/articles/PMC2137650/ /pubmed/14077997 Text en Copyright © 1963, by The Rockefeller Institute This article is distributed under the terms of an Attribution–Noncommercial–Share Alike–No Mirror Sites license for the first six months after the publication date (see http://www.rupress.org/terms). After six months it is available under a Creative Commons License (Attribution–Noncommercial–Share Alike 4.0 Unported license, as described at http://creativecommons.org/licenses/by-nc-sa/4.0/).
spellingShingle Article
Robinson, Arthur
THE ASSAY OF GALACTOKINASE AND GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN HUMAN ERYTHROCYTES : A PRESUMED TEST FOR HETEROZYGOUS CARRIERS OF THE GALACTOSEMIC DEFECT
title THE ASSAY OF GALACTOKINASE AND GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN HUMAN ERYTHROCYTES : A PRESUMED TEST FOR HETEROZYGOUS CARRIERS OF THE GALACTOSEMIC DEFECT
title_full THE ASSAY OF GALACTOKINASE AND GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN HUMAN ERYTHROCYTES : A PRESUMED TEST FOR HETEROZYGOUS CARRIERS OF THE GALACTOSEMIC DEFECT
title_fullStr THE ASSAY OF GALACTOKINASE AND GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN HUMAN ERYTHROCYTES : A PRESUMED TEST FOR HETEROZYGOUS CARRIERS OF THE GALACTOSEMIC DEFECT
title_full_unstemmed THE ASSAY OF GALACTOKINASE AND GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN HUMAN ERYTHROCYTES : A PRESUMED TEST FOR HETEROZYGOUS CARRIERS OF THE GALACTOSEMIC DEFECT
title_short THE ASSAY OF GALACTOKINASE AND GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN HUMAN ERYTHROCYTES : A PRESUMED TEST FOR HETEROZYGOUS CARRIERS OF THE GALACTOSEMIC DEFECT
title_sort assay of galactokinase and galactose-1-phosphate uridyl transferase activity in human erythrocytes : a presumed test for heterozygous carriers of the galactosemic defect
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2137650/
https://www.ncbi.nlm.nih.gov/pubmed/14077997
work_keys_str_mv AT robinsonarthur theassayofgalactokinaseandgalactose1phosphateuridyltransferaseactivityinhumanerythrocytesapresumedtestforheterozygouscarriersofthegalactosemicdefect
AT robinsonarthur assayofgalactokinaseandgalactose1phosphateuridyltransferaseactivityinhumanerythrocytesapresumedtestforheterozygouscarriersofthegalactosemicdefect

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