BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

345 related articles for article (PubMed ID: 9538513)

  • 21. Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases.
    Schulpis KH; Thodi G; Iakovou K; Chatzidaki M; Dotsikas Y; Molou E; Triantafylli O; Loukas YL
    J Pediatr Endocrinol Metab; 2017 Jul; 30(7):775-779. PubMed ID: 28672748
    [TBL] [Abstract][Full Text] [Related]  

  • 22. [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]  

  • 23. A first case report of UDP-galactose-4'-epimerase deficiency in China: genotype and phenotype.
    Tong F; Yang R; Hong F; Qian G; Jiang P; Gao R
    J Pediatr Endocrinol Metab; 2016 Mar; 29(3):379-83. PubMed ID: 26565537
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Identification of five mutations in a patient with galactose metabolic disorders.
    Schulpis KH; Thodi G; Iakovou K; Dotsikas Y; Molou E; Loukas YL
    J Pediatr Endocrinol Metab; 2018 Jan; 31(2):221-222. PubMed ID: 29303783
    [No Abstract]   [Full Text] [Related]  

  • 25. Hereditary galactosemia.
    Demirbas D; Coelho AI; Rubio-Gozalbo ME; Berry GT
    Metabolism; 2018 Jun; 83():188-196. PubMed ID: 29409891
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase.
    Quimby BB; Alano A; Almashanu S; DeSandro AM; Cowan TM; Fridovich-Keil JL
    Am J Hum Genet; 1997 Sep; 61(3):590-8. PubMed ID: 9326324
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Molecular characterization of a unique patient with epimerase-deficiency galactosaemia.
    Alano A; Almashanu S; Chinsky JM; Costeas P; Blitzer MG; Wulfsberg EA; Cowan TM
    J Inherit Metab Dis; 1998 Jun; 21(4):341-50. PubMed ID: 9700591
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. Distinct roles of galactose-1P in galactose-mediated growth arrest of yeast deficient in galactose-1P uridylyltransferase (GALT) and UDP-galactose 4'-epimerase (GALE).
    Mumma JO; Chhay JS; Ross KL; Eaton JS; Newell-Litwa KA; Fridovich-Keil JL
    Mol Genet Metab; 2008 Feb; 93(2):160-71. PubMed ID: 17981065
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Generalized epimerase deficiency galactosemia.
    Sarkar M; Bose SS; Mondal G; Chatterjee S
    Indian J Pediatr; 2010 Aug; 77(8):909-10. PubMed ID: 20725869
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia.
    Wohlers TM; Christacos NC; Harreman MT; Fridovich-Keil JL
    Am J Hum Genet; 1999 Feb; 64(2):462-70. PubMed ID: 9973283
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. 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]  

  • 35. Genetics of galactose metabolism of Erwinia amylovora and its influence on polysaccharide synthesis and virulence of the fire blight pathogen.
    Metzger M; Bellemann P; Bugert P; Geider K
    J Bacteriol; 1994 Jan; 176(2):450-9. PubMed ID: 7507102
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Uridine diphosphate galactose 4'-epimerase deficiency. IV. Report of eight cases in three families.
    Gitzelmann R; Steinmann B; Mitchell B; Haigis E
    Helv Paediatr Acta; 1977 Apr; 31(6):441-52. PubMed ID: 404274
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Studies of the V94M-substituted human UDPgalactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosaemia.
    Wohlers TM; Fridovich-Keil JL
    J Inherit Metab Dis; 2000 Nov; 23(7):713-29. PubMed ID: 11117433
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. Mediators of galactose sensitivity in UDP-galactose 4'-epimerase-impaired mammalian cells.
    Schulz JM; Ross KL; Malmstrom K; Krieger M; Fridovich-Keil JL
    J Biol Chem; 2005 Apr; 280(14):13493-502. PubMed ID: 15701638
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Functional characterization and transcriptional analysis of galE gene encoding a UDP-galactose 4-epimerase in Xanthomonas campestris pv. campestris.
    Li CT; Liao CT; Du SC; Hsiao YP; Lo HH; Hsiao YM
    Microbiol Res; 2014; 169(5-6):441-52. PubMed ID: 24120348
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 18.