BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

212 related articles for article (PubMed ID: 9266215)

  • 1. Quantitative assessment of whole body galactose metabolism in galactosemic patients.
    Berry GT; Nissim I; Gibson JB; Mazur AT; Lin Z; Elsas LJ; Singh RH; Klein PD; Segal S
    Eur J Pediatr; 1997 Aug; 156 Suppl 1():S43-9. PubMed ID: 9266215
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes.
    Berry GT; Singh RH; Mazur AT; Guerrero N; Kennedy MJ; Chen J; Reynolds R; Palmieri MJ; Klein PD; Segal S; Elsas LJ
    Pediatr Res; 2000 Sep; 48(3):323-8. PubMed ID: 10960497
    [TBL] [Abstract][Full Text] [Related]  

  • 3. In vivo oxidation of [13C]galactose in patients with galactose-1-phosphate uridyltransferase deficiency.
    Berry GT; Nissim I; Mazur AT; Elsas LJ; Singh RH; Klein PD; Gibson JB; Lin Z; Segal S
    Biochem Mol Med; 1995 Dec; 56(2):158-65. PubMed ID: 8825079
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia.
    Palmieri M; Mazur A; Berry GT; Ning C; Wehrli S; Yager C; Reynolds R; Singh R; Muralidharan K; Langley S; Elsas L; Segal S
    Metabolism; 1999 Oct; 48(10):1294-302. PubMed ID: 10535394
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Pathways of galactose metabolism by galactosemics: evidence for galactose conversion to hepatic UDPglucose.
    Segal S; Wehrli S; Yager C; Reynolds R
    Mol Genet Metab; 2006 Feb; 87(2):92-101. PubMed ID: 16260165
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Metabolism of 13C galactose by lymphoblasts from patients with galactosemia determined by NMR spectroscopy.
    Wehrli SL; Reynolds R; Chen J; Yager C; Segal S
    Mol Genet Metab; 2002 Dec; 77(4):296-303. PubMed ID: 12468275
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Extended [13C]galactose oxidation studies in patients with galactosemia.
    Berry GT; Reynolds RA; Yager CT; Segal S
    Mol Genet Metab; 2004 Jun; 82(2):130-6. PubMed ID: 15172000
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 130(6):972-80. PubMed ID: 9202622
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Age dependence of endogenous galactose formation in Q188R homozygous galactosemic patients.
    Schadewaldt P; Kamalanathan L; Hammen HW; Wendel U
    Mol Genet Metab; 2004 Jan; 81(1):31-44. PubMed ID: 14728989
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A prevalent mutation for galactosemia among black Americans.
    Lai K; Langley SD; Singh RH; Dembure PP; Hjelm LN; Elsas LJ
    J Pediatr; 1996 Jan; 128(1):89-95. PubMed ID: 8551426
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Plasma galactose and galactitol concentration in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia: determination by gas chromatography/mass spectrometry.
    Ning C; Segal S
    Metabolism; 2000 Nov; 49(11):1460-6. PubMed ID: 11092512
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Detection of common mutations in the GALT gene through ARMS.
    Mahmood U; Imran M; Naik SI; Cheema HA; Saeed A; Arshad M; Mahmood S
    Gene; 2012 Nov; 509(2):291-4. PubMed ID: 22963887
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Oxidation of galactose by galactose-1-phosphate uridyltransferase-deficient lymphoblasts.
    Yager C; Gibson J; States B; Elsas LJ; Segal S
    J Inherit Metab Dis; 2001 Aug; 24(4):465-76. PubMed ID: 11596650
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Simultaneous occurrence of various mutations and polymorphisms in cis and in trans of the galactose-1-phosphate uridyltransferase gene in a Turkish family with classical galactosemia.
    Schuster V; Podskarbi T; Ottensmeier H; Haubner M; Shin YS
    J Mol Med (Berl); 1998 Sep; 76(10):715-9. PubMed ID: 9766850
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Endogenous galactose formation in galactose-1-phosphate uridyltransferase deficiency.
    Schadewaldt P; Kamalanathan L; Hammen HW; Kotzka J; Wendel U
    Arch Physiol Biochem; 2014 Dec; 120(5):228-39. PubMed ID: 25268296
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. The molecular biology of galactosemia.
    Elsas LJ; Lai K
    Genet Med; 1998; 1(1):40-8. PubMed ID: 11261429
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Galactose oxidation using (13)C in healthy and galactosemic children.
    Resende-Campanholi DR; Porta G; Ferrioli E; Pfrimer K; Ciampo LA; Junior JS
    Braz J Med Biol Res; 2015 Mar; 48(3):280-5. PubMed ID: 25608239
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.