Literature DB >> 5715186

Detection of heterozygotes for galactokinase deficiency in a human population.

J S Mayes, R Guthrie.   

Abstract

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Year:  1968        PMID： 5715186     DOI： 10.1007/bf01474761

Source DB:  PubMed          Journal:  Biochem Genet        ISSN： 0006-2928            Impact factor:   1.890


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  18 in total

1.  ESTIMATION OF FREQUENCY OF OCCURRENCE OF GALACTOSEMIA IN THE POPULATION.

Authors:  R G HANSEN; R K BRETTHAUER; J MAYES; J H NORDIN
Journal:  Proc Soc Exp Biol Med       Date:  1964-02

2.  Rapid enzyme assay technique utilizing radioactive substrate, ion-exchange paper, and liquid scintillation counting.

Authors:  J R SHERMAN
Journal:  Anal Biochem       Date:  1963-06       Impact factor: 3.365

3.  A study of the genetics of galactosaemia.

Authors:  V SCHWARZ; A R WELLS; A HOLZEL; G M KOMROWER
Journal:  Ann Hum Genet       Date:  1961-12       Impact factor: 1.670

4.  Further studies on the heterozygous carrier in galactosemia.

Authors:  D Y HSIA; M TANNENBAUM; J A SCHNEIDER; I HUANG; K SIMPSON
Journal:  J Lab Clin Med       Date:  1960-09

5.  The enzymatic expression of heterozygosity in families of children with galactosemia.

Authors:  G N DONNELL; W R BERGREN; R K BRETTHAUER; R G HANSEN
Journal:  Pediatrics       Date:  1960-04       Impact factor: 7.124

6.  Congenital galactosemia, a single enzymatic block in galactose metabolism.

Authors:  K J ISSELBACHER; E P ANDERSON; K KURAHASHI; H M KALCKAR
Journal:  Science       Date:  1956-04-13       Impact factor: 47.728

7.  Biochemical characteristics of galactokinase from adult and fetal human red cells.

Authors:  C K Mathai; E Beutler
Journal:  Enzymologia       Date:  1967-10-31

8.  Deficiency of erythrocyte galactokinase in a patient with galactose diabetes.

Authors:  R Gitzelmann
Journal:  Lancet       Date:  1965-10-02       Impact factor: 79.321

9.  Electrophoretic variation of galactose-1-phosphate uridyltransferase.

Authors:  C K Mathai; E Beutler
Journal:  Science       Date:  1966-12-02       Impact factor: 47.728

10.  The genetics of galactose-1-phosphate uridyl transferase deficiency.

Authors:  E Beutler; M C Baluda; P Sturgeon; R W Day
Journal:  J Lab Clin Med       Date:  1966-10
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  4 in total

1.  Human erythrocyte galactokinase and galactose-1-phosphate uridylyltransferase: a population survey.

Authors:  T A Tedesco; K L Miller; B E Rawnsley; M T Mennuti; R S Spielman; W J Mellman
Journal:  Am J Hum Genet       Date:  1975-11       Impact factor: 11.025

Review 2.  Clinical features of galactokinase deficiency: a review of the literature.

Authors:  A M Bosch; H D Bakker; A H van Gennip; J V van Kempen; R J A Wanders; F A Wijburg
Journal:  J Inherit Metab Dis       Date:  2002-12       Impact factor: 4.982

3.  A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).

Authors:  L Kalaydjieva; A Perez-Lezaun; D Angelicheva; S Onengut; D Dye; N U Bosshard; A Jordanova; A Savov; P Yanakiev; I Kremensky; B Radeva; J Hallmayer; A Markov; V Nedkova; I Tournev; L Aneva; R Gitzelmann
Journal:  Am J Hum Genet       Date:  1999-11       Impact factor: 11.025

4.  Epimerase-deficiency galactosemia is not a binary condition.

Authors:  Kimberly K Openo; Jenny M Schulz; Claudia A Vargas; Corey S Orton; Michael P Epstein; Rhonda E Schnur; Fernando Scaglia; Gerard T Berry; Gary S Gottesman; Can Ficicioglu; Alfred E Slonim; Richard J Schroer; Chunli Yu; Vanessa E Rangel; Jennifer Keenan; Kerri Lamance; Judith L Fridovich-Keil
Journal:  Am J Hum Genet       Date:  2005-11-14       Impact factor: 11.025
  4 in total

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