These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

666 related articles for article (PubMed ID: 14753129)

  • 1. [From gene to disease; galactosemia and galactose-1-phosphate uridyltransferase deficiency].
    Bosch AM; Waterham HR; Bakker HD
    Ned Tijdschr Geneeskd; 2004 Jan; 148(2):80-1. PubMed ID: 14753129
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. Mutation in brief no. 235. Online.
    Seyrantepe V; Ozguc M; Coskun T; Ozalp I; Reichardt JK
    Hum Mutat; 1999; 13(4):339. PubMed ID: 10220154
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of novel mutations in classical galactosemia.
    Bosch AM; Ijlst L; Oostheim W; Mulders J; Bakker HD; Wijburg FA; Wanders RJ; Waterham HR
    Hum Mutat; 2005 May; 25(5):502. PubMed ID: 15841485
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Galactosemia: when is it a newborn screening emergency?
    Berry GT
    Mol Genet Metab; 2012 May; 106(1):7-11. PubMed ID: 22483615
    [TBL] [Abstract][Full Text] [Related]  

  • 5. UDP-galactose pyrophosphorylase in mice with galactose-1-phosphate uridyltransferase deficiency.
    Leslie N; Yager C; Reynolds R; Segal S
    Mol Genet Metab; 2005 May; 85(1):21-7. PubMed ID: 15862277
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The first study of galactose-1-phosphate uridyl transferase mutations in Iranian galactosemia patients.
    Mirzajani F; Mirfakhraie R; Nabati F; Tabatabaei NN; Talachian E; Houshmand M
    Clin Biochem; 2006 Jul; 39(7):697-9. PubMed ID: 16765930
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genetic basis of galactosemia.
    Reichardt JK
    Hum Mutat; 1992; 1(3):190-6. PubMed ID: 1301925
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Prenatal diagnosis of galactose-1-phosphate uridyltransferase (GALT)-deficient galactosemia.
    Elsas LJ
    Prenat Diagn; 2001 Apr; 21(4):302-3. PubMed ID: 11288121
    [No Abstract]   [Full Text] [Related]  

  • 9. Galactosemia as a result of galactose-1-phosphate uridyltransferase deficiency.
    Vaca G; Sanchez-Corona J; Medina C; Olivares N; Rivera H; Hernández A; Ibarra B; Sotomayor JM; Cantú JM
    Arch Invest Med (Mex); 1978; 9(3):477-84. PubMed ID: 568459
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Double heterozygosity (transferase-/epimerase-defect) and galactosemia cataract].
    Heyne K; Shin YS; Schwinger E
    Monatsschr Kinderheilkd; 1988 Dec; 136(12):828-30. PubMed ID: 2853298
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The molecular relationship between deficient UDP-galactose uridyl transferase (GALT) and ceramide galactosyltransferase (CGT) enzyme function: a possible cause for poor long-term prognosis in classic galactosemia.
    Lebea PJ; Pretorius PJ
    Med Hypotheses; 2005; 65(6):1051-7. PubMed ID: 16125333
    [TBL] [Abstract][Full Text] [Related]  

  • 12. GALT deficiency causes UDP-hexose deficit in human galactosemic cells.
    Lai K; Langley SD; Khwaja FW; Schmitt EW; Elsas LJ
    Glycobiology; 2003 Apr; 13(4):285-94. PubMed ID: 12626383
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.
    Tyfield L; Reichardt J; Fridovich-Keil J; Croke DT; Elsas LJ; Strobl W; Kozak L; Coskun T; Novelli G; Okano Y; Zekanowski C; Shin Y; Boleda MD
    Hum Mutat; 1999; 13(6):417-30. PubMed ID: 10408771
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Evidence for alternate galactose oxidation in a patient with deletion of the galactose-1-phosphate uridyltransferase gene.
    Berry GT; Leslie N; Reynolds R; Yager CT; Segal S
    Mol Genet Metab; 2001 Apr; 72(4):316-21. PubMed ID: 11286505
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular basis of disorders of human galactose metabolism: past, present, and future.
    Novelli G; Reichardt JK
    Mol Genet Metab; 2000; 71(1-2):62-5. PubMed ID: 11001796
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase in human lymphoblasts.
    Lai K; Langley SD; Dembure PP; Hjelm LN; Elsas LJ
    Hum Mutat; 1998; 11(1):28-38. PubMed ID: 9450900
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular and biochemical characterization of the GALT gene in Korean patients with galactose-1-phosphate uridyltransferase deficiency.
    Ko DH; Chang HE; Song SH; Park KU; Kim JQ; Kim MC; Song YH; Hong YH; Lee DH; Song J
    Clin Chim Acta; 2010 Oct; 411(19-20):1506-10. PubMed ID: 20547145
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene.
    Calderon FR; Phansalkar AR; Crockett DK; Miller M; Mao R
    Hum Mutat; 2007 Oct; 28(10):939-43. PubMed ID: 17486650
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.
    Greber-Platzer S; Guldberg P; Scheibenreiter S; Item C; Schuller E; Patel N; Strobl W
    Hum Mutat; 1997; 10(1):49-57. PubMed ID: 9222760
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Galactose metabolism in mice with galactose-1-phosphate uridyltransferase deficiency: sucklings and 7-week-old animals fed a high-galactose diet.
    Ning C; Reynolds R; Chen J; Yager C; Berry GT; Leslie N; Segal S
    Mol Genet Metab; 2001 Apr; 72(4):306-15. PubMed ID: 11286504
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 34.