Literature DB >> 16589815

GALACTOSEMIA, A CONGENITAL DEFECT IN A NUCLEOTIDE TRANSFERASE: A PRELIMINARY REPORT.

H M Kalckar1, E P Anderson, K J Isselbacher.   

Abstract

Entities:  

Year:  1956        PMID： 16589815      PMCID： PMC528210          DOI： 10.1073/pnas.42.2.49

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN： 0027-8424            Impact factor:   11.205


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  5 in total

1.  A study of the genetics of galactosaemia.

Authors:  A HOLZEL; G M KOMROWER
Journal:  Arch Dis Child       Date:  1955-04       Impact factor: 3.791

2.  Pathologic physiology in some disturbances of carbohydrate metabolism.

Authors:  A F HARTMANN
Journal:  J Pediatr       Date:  1955-11       Impact factor: 4.406

3.  Vanadium as an essential element for green plants.

Authors:  D I ARNON; G WESSEL
Journal:  Nature       Date:  1953-12-05       Impact factor: 49.962

4.  Uridyl transferases and the formation of uridine triphosphate; enzymic production of uridine triphosphate: uridine diphosphoglucose pyrophosphorolysis.

Authors:  A MUNCH-PETERSEN; H M KALCKAR; E CUTOLO; E E SMITH
Journal:  Nature       Date:  1953-12-05       Impact factor: 49.962

5.  The enzymatic transformation of uridine diphosphate glucose into a galactose derivative.

Authors:  L F LELOIR
Journal:  Arch Biochem Biophys       Date:  1951-09       Impact factor: 4.013
  5 in total
  9 in total

1.  Galactosaemia.

Authors:  A Sass-Kortsak
Journal:  Can Med Assoc J       Date:  1956-05-01       Impact factor: 8.262

2.  Salubrinal enhances eIF2α phosphorylation and improves fertility in a mouse model of Classic Galactosemia.

Authors:  B Balakrishnan; A Siddiqi; J Mella; A Lupo; E Li; J Hollien; J Johnson; K Lai
Journal:  Biochim Biophys Acta Mol Basis Dis       Date:  2019-07-27       Impact factor: 5.187

3.  [Enzymatic methods for the diagnosis of galactosemia and galactose deficiency].

Authors:  H Kruas; E Mönch
Journal:  Klin Wochenschr       Date:  1970-04-01

4.  UDP-glucose: alpha-D-galactose-1-phosphate uridylytransferase activity in cultured human fibroblasts.

Authors:  J D Russell; R DeMars
Journal:  Biochem Genet       Date:  1967-06       Impact factor: 1.890

5.  Cataracts and galactose metabolism.

Authors:  W A Wilson
Journal:  Trans Am Ophthalmol Soc       Date:  1967

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

Authors:  A ROBINSON
Journal:  J Exp Med       Date:  1963-09-01       Impact factor: 14.307

7.  Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-1-phosphate uridyl transferase activity.

Authors:  H L Nadler; C M Chacko; M Rachmeler
Journal:  Proc Natl Acad Sci U S A       Date:  1970-10       Impact factor: 11.205

8.  Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations.

Authors:  Daniel F Garcia; José S Camelo; Greice A Molfetta; Marlene Turcato; Carolina F M Souza; Gilda Porta; Carlos E Steiner; Wilson A Silva
Journal:  BMC Med Genet       Date:  2016-05-12       Impact factor: 2.103

9.  Metabolite changes signal genetic regulatory mechanisms for robust cell behavior.

Authors:  Sang Jun Lee; Andrei Trostel; Sankar Adhya
Journal:  MBio       Date:  2014-01-28       Impact factor: 7.867
  9 in total

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