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    Results: 1 to 20 of 245

    1.

    Chemoenzymatic synthesis of mono- and di-fluorinated Thomsen-Friedenreich (T) antigens and their sialylated derivatives.

    Yan J, Chen X, Wang F, Cao H.

    Org Biomol Chem. 2013 Feb 7;11(5):842-8. doi: 10.1039/c2ob26989a. Epub 2012 Dec 14.

    PMID:
    23241945
    [PubMed - indexed for MEDLINE]
    2.

    Galactokinase deficiency induced cataracts in Indian infants: identification of 4 novel mutations in GALK gene.

    Singh R, Ram J, Kaur G, Prasad R.

    Curr Eye Res. 2012 Oct;37(10):949-54. doi: 10.3109/02713683.2012.688162. Epub 2012 May 25.

    PMID:
    22632133
    [PubMed - indexed for MEDLINE]
    3.

    The Gal3p transducer of the GAL regulon interacts with the Gal80p repressor in its ligand-induced closed conformation.

    Lavy T, Kumar PR, He H, Joshua-Tor L.

    Genes Dev. 2012 Feb 1;26(3):294-303. doi: 10.1101/gad.182691.111.

    PMID:
    22302941
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    4.

    Evaluation of analogues of GalNAc as substrates for enzymes of the mammalian GalNAc salvage pathway.

    Pouilly S, Bourgeaux V, Piller F, Piller V.

    ACS Chem Biol. 2012 Apr 20;7(4):753-60. doi: 10.1021/cb200511t. Epub 2012 Feb 9.

    PMID:
    22276930
    [PubMed - indexed for MEDLINE]
    5.

    Early cataract formation due to galactokinase deficiency: impact of newborn screening.

    Janzen N, Illsinger S, Meyer U, Shin YS, Sander J, Lücke T, Das AM.

    Arch Med Res. 2011 Oct;42(7):608-12. doi: 10.1016/j.arcmed.2011.11.004. Epub 2011 Dec 5.

    PMID:
    22154682
    [PubMed - indexed for MEDLINE]
    6.

    Innovative therapy for Classic Galactosemia - tale of two HTS.

    Tang M, Odejinmi SI, Vankayalapati H, Wierenga KJ, Lai K.

    Mol Genet Metab. 2012 Jan;105(1):44-55. doi: 10.1016/j.ymgme.2011.09.028. Epub 2011 Oct 1. Review.

    PMID:
    22018723
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    7.

    N-acetylgalactosamine kinase: a naturally promiscuous small molecule kinase.

    Kristiansson H, Timson DJ.

    Appl Biochem Biotechnol. 2012 Jan;166(1):57-63. doi: 10.1007/s12010-011-9403-z. Epub 2011 Oct 8.

    PMID:
    21984386
    [PubMed - indexed for MEDLINE]
    8.

    Hepatic galactose metabolism quantified in humans using 2-18F-fluoro-2-deoxy-D-galactose PET/CT.

    Sørensen M, Mikkelsen KS, Frisch K, Bass L, Bibby BM, Keiding S.

    J Nucl Med. 2011 Oct;52(10):1566-72. doi: 10.2967/jnumed.111.092924. Epub 2011 Aug 29.

    PMID:
    21875925
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    9.

    Increased promiscuity of human galactokinase following alteration of a single amino acid residue distant from the active site.

    Kristiansson H, Timson DJ.

    Chembiochem. 2011 Sep 5;12(13):2081-7. doi: 10.1002/cbic.201100308. Epub 2011 Jul 11.

    PMID:
    21748839
    [PubMed - indexed for MEDLINE]
    10.

    The role of the active site residues in human galactokinase: implications for the mechanisms of GHMP kinases.

    Megarity CF, Huang M, Warnock C, Timson DJ.

    Bioorg Chem. 2011 Jun;39(3):120-6. doi: 10.1016/j.bioorg.2011.03.001. Epub 2011 Mar 21.

    PMID:
    21474160
    [PubMed - indexed for MEDLINE]
    11.

    Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.

    Hennermann JB, Schadewaldt P, Vetter B, Shin YS, Mönch E, Klein J.

    J Inherit Metab Dis. 2011 Apr;34(2):399-407. doi: 10.1007/s10545-010-9270-8. Epub 2011 Feb 3.

    PMID:
    21290184
    [PubMed - indexed for MEDLINE]
    12.

    The effect of a Pro²⁸Thr point mutation on the local structure and stability of human galactokinase enzyme-a theoretical study.

    Jójárt B, Szori M, Izsák R, Marsi I, László A, Csizmadia IG, Viskolcz B.

    J Mol Model. 2011 Oct;17(10):2639-49. doi: 10.1007/s00894-011-0958-y. Epub 2011 Jan 25.

    PMID:
    21264483
    [PubMed - indexed for MEDLINE]
    13.

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

    Li Y, Ptolemy AS, Harmonay L, Kellogg M, Berry GT.

    Mol Genet Metab. 2011 Jan;102(1):33-40. doi: 10.1016/j.ymgme.2010.08.018. Epub 2010 Sep 21.

    PMID:
    20863731
    [PubMed - indexed for MEDLINE]
    14.

    Generalized epimerase deficiency galactosemia.

    Sarkar M, Bose SS, Mondal G, Chatterjee S.

    Indian J Pediatr. 2010 Aug;77(8):909-10. doi: 10.1007/s12098-010-0135-9. Epub 2010 Aug 20.

    PMID:
    20725869
    [PubMed - indexed for MEDLINE]
    15.

    Molecular and biochemical characterization of human galactokinase and its small molecule inhibitors.

    Tang M, Wierenga K, Elsas LJ, Lai K.

    Chem Biol Interact. 2010 Dec 5;188(3):376-85. doi: 10.1016/j.cbi.2010.07.025. Epub 2010 Aug 7.

    PMID:
    20696150
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    16.

    Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.

    Yasmeen A, Riazuddin SA, Kaul H, Mohsin S, Khan M, Qazi ZA, Nasir IA, Zafar AU, Khan SN, Husnain T, Akram J, Hejtmancik JF, Riazuddin S.

    Mol Vis. 2010 Apr 15;16:682-8.

    PMID:
    20405025
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    17.

    Vertical sandwich-type continuous/evaporative TLC with fixed mobile phase volume for separating sugars of clinical relevance in paper-borne urine and blood samples in newborn screening.

    Alonso-Fernandez JR, Carpinteiro MI, Baleato J, Fidalgo J.

    J Clin Lab Anal. 2010;24(2):106-12. doi: 10.1002/jcla.20371.

    PMID:
    20333764
    [PubMed - indexed for MEDLINE]
    18.

    A novel c.-22T>C mutation in GALK1 promoter is associated with elevated galactokinase phenotype.

    Park HD, Kim YK, Park KU, Kim JQ, Song YH, Song J.

    BMC Med Genet. 2009 Mar 24;10:29. doi: 10.1186/1471-2350-10-29.

    PMID:
    19309526
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    19.

    Issues on universal screening for galactosemia.

    Padilla CD, Lam ST.

    Ann Acad Med Singapore. 2008 Dec;37(12 Suppl):39-3.

    PMID:
    19904445
    [PubMed - indexed for MEDLINE]
    Free Article
    20.

    UGE1 and UGE2 regulate the UDP-glucose/UDP-galactose equilibrium in Cryptococcus neoformans.

    Moyrand F, Lafontaine I, Fontaine T, Janbon G.

    Eukaryot Cell. 2008 Dec;7(12):2069-77. doi: 10.1128/EC.00189-08. Epub 2008 Sep 26.

    PMID:
    18820075
    [PubMed - indexed for MEDLINE]
    Free PMC Article

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