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Journal Abstract Search

155 related items for PubMed ID: 173184

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  • 2. The Philadelphia variant of galactokinase.
    Tedesco TA, Miller KL, Rawnsley BE, Adams MC, Markus HB, Orkwiszewski KG, Mellman WJ.
    Am J Hum Genet; 1977 May; 29(3):240-7. PubMed ID: 194478
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  • 10. [Identification of inborn errors of galactose metabolism in patients with cataracts].
    Vaca-Pacheco G, Medina C, García-Cruz D, Sánchez-Corona J, Chávez-Anaya E, Jaimes C, Hernández-Córdova A.
    Arch Invest Med (Mex); 1990 May; 21(2):127-32. PubMed ID: 2103700
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  • 11. The Philadelphia variant of galactokinase in human erythrocytes: physicochemical and catalytic properties.
    Soni T, Brivet M, Moatti N, Lemonnier A.
    Clin Chim Acta; 1988 Jun 30; 175(1):97-106. PubMed ID: 3168287
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  • 12. Frequency distribution of Q188R, N314D, Duarte 1, and Duarte 2 GALT variant alleles in an Indian galactosemia population.
    Singh R, Thapa BR, Kaur G, Prasad R.
    Biochem Genet; 2012 Dec 30; 50(11-12):871-80. PubMed ID: 22798028
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  • 15. Black children deficient in galactose 1-phosphate uridyltransferase: correlation of activity and immunoreactive protein in erythrocytes and leukocytes.
    Landt M, Ritter D, Lai K, Benke PJ, Elsas LJ, Steiner RD.
    J Pediatr; 1997 Jun 30; 130(6):972-80. PubMed ID: 9202622
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  • 16. A new genetic variant of galactose-1-phosphate uridyl transferase.
    Scherz R, Pflugshaupt R, Bütler R.
    Hum Genet; 1976 Dec 29; 35(1):51-5. PubMed ID: 1002164
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  • 17. An unusual form of galactosemia: studies on erythrocytes and hair roots.
    de Bruyn CH, Oei TL, Monnens LA, Trijbels JM.
    Clin Genet; 1978 Jan 29; 13(1):8-16. PubMed ID: 203421
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  • 18. The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.
    Demirbas D, Huang X, Daesety V, Feenstra S, Haskovic M, Qi W, Gubbels CS, Hecht L, Levy HL, Waisbren SE, Berry GT.
    Mol Genet Metab; 2019 Apr 29; 126(4):368-376. PubMed ID: 30718057
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