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 *

284 related articles for article (PubMed ID: 15841485)

  • 1. 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]  

  • 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. [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]  

  • 4. Molecular characterization of galactosemia (type 1) mutations in Japanese.
    Ashino J; Okano Y; Suyama I; Yamazaki T; Yoshino M; Furuyama J; Lin HC; Reichardt JK; Isshiki G
    Hum Mutat; 1995; 6(1):36-43. PubMed ID: 7550229
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R).
    Kozák L; Francová H; Fajkusová L; Pijácková A; Macku J; Stastná S; Peskovová K; Martincová O; Krijt J; Bzdúch V
    Hum Mutat; 2000 Feb; 15(2):206. PubMed ID: 10649501
    [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. 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]  

  • 8. 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]  

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

  • 10. 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]  

  • 11. Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia.
    Elsas LJ; Lai K; Saunders CJ; Langley SD
    Mol Genet Metab; 2001 Apr; 72(4):297-305. PubMed ID: 11286503
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel mutations and their structural and functional implications.
    Singh R; Thapa BR; Kaur G; Prasad R
    Clin Chim Acta; 2012 Dec; 414():191-6. PubMed ID: 23022339
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia.
    Maceratesi P; Daude N; Dallapiccola B; Novelli G; Allen R; Okano Y; Reichardt J
    Mol Genet Metab; 1998 Jan; 63(1):26-30. PubMed ID: 9538513
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Galactosemia caused by a point mutation that activates cryptic donor splice site in the galactose-1-phosphate uridyltransferase gene.
    Wadelius C; Lagerkvist A; Molin AK; Larsson A; von Döbeln U; Pettersson U
    Genomics; 1993 Aug; 17(2):525-6. PubMed ID: 8406510
    [No Abstract]   [Full Text] [Related]  

  • 16. Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations.
    Garcia DF; Camelo JS; Molfetta GA; Turcato M; Souza CF; Porta G; Steiner CE; Silva WA
    BMC Med Genet; 2016 May; 17(1):39. PubMed ID: 27176039
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients.
    Hirokawa H; Okano Y; Asada M; Fujimoto A; Suyama I; Isshiki G
    Eur J Hum Genet; 1999; 7(7):757-64. PubMed ID: 10573007
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity.
    Choi R; Jo KI; Ko DH; Lee DH; Song J; Jin DK; Ki CS; Lee SY; Kim JW; Lee YW; Park HD
    BMC Med Genet; 2014 Aug; 15():94. PubMed ID: 25124065
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.