Literature DB >> 14204065

GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN GALACTOSAEMIA.

N G WONGIN, W R BERGREN, G N DONNELL.   

Abstract

Keywords:  CARBON DIOXIDE; ENZYME TESTS; ERYTHROCYTES; GALACTOSE; GALACTOSEMIA; GENETICS, HUMAN; LEUKOCYTES; METABOLISM; NUCLEOTIDYLTRANSFERASES

Mesh：

Substances：

Year:  1964        PMID： 14204065     DOI： 10.1038/203845a0

Source DB:  PubMed          Journal:  Nature        ISSN： 0028-0836            Impact factor:   49.962


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  8 in total

1.  Quantification of galactose-1-phosphate uridyltransferase enzyme activity by liquid chromatography-tandem mass spectrometry.

Authors:  Yijun Li; Adam S Ptolemy; Lauren Harmonay; Mark Kellogg; Gerard T Berry
Journal:  Clin Chem       Date:  2010-03-26       Impact factor: 8.327

2.  Enzyme kinetics in mammalian cells. I. Rate constants for galactose metabolism in erythrocytes of normal galactosemic, and heterozygous subjects.

Authors:  T T Puck; H Z Hill
Journal:  Proc Natl Acad Sci U S A       Date:  1967-06       Impact factor: 11.205

3.  Cataracts and galactose metabolism.

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

4.  Ultra fast and sensitive liquid chromatography tandem mass spectrometry based assay for galactose-1-phosphate uridylyltransferase and galactokinase deficiencies.

Authors:  Yijun Li; Adam S Ptolemy; Lauren Harmonay; Mark Kellogg; Gerard T Berry
Journal:  Mol Genet Metab       Date:  2010-09-21       Impact factor: 4.797

5.  Biochemical studies of a human low-activity galactose-1-phosphate uridyl transferase variant.

Authors:  W G Ng; F Kline; J Lin; R Koch; G N Donnell
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

6.  Uridine nucleotide sugars in erythrocytes of patients with galactokinase deficiency.

Authors:  Y K Xu; W G Ng; F R Kaufman; G N Donnell
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

7.  Two adult galactosaemia females with normal ovarian function and identical GALT mutations (Q188R/R333G).

Authors:  W G Ng; Y K Xu; L J Wong; F R Kaufman; N R M Buist; G N Donnell
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

8.  Biochemical and molecular studies of 132 patients with galactosemia.

Authors:  W G Ng; Y K Xu; F R Kaufman; G N Donnell; J Wolff; R J Allen; S Koritala; J K Reichardt
Journal:  Hum Genet       Date:  1994-10       Impact factor: 4.132
  8 in total

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