BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

250 related articles for article (PubMed ID: 11113841)

  • 1. Risk factors for premature ovarian failure in females with galactosemia.
    Guerrero NV; Singh RH; Manatunga A; Berry GT; Steiner RD; Elsas LJ
    J Pediatr; 2000 Dec; 137(6):833-41. PubMed ID: 11113841
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Correlation of cognitive, neurologic, and ovarian outcome with the Q188R mutation of the galactose-1-phosphate uridyltransferase gene.
    Kaufman FR; Reichardt JK; Ng WG; Xu YK; Manis FR; McBride-Chang C; Wolff JA
    J Pediatr; 1994 Aug; 125(2):225-7. PubMed ID: 8040766
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. Modifiers of ovarian function in girls and women with classic galactosemia.
    Spencer JB; Badik JR; Ryan EL; Gleason TJ; Broadaway KA; Epstein MP; Fridovich-Keil JL
    J Clin Endocrinol Metab; 2013 Jul; 98(7):E1257-65. PubMed ID: 23690308
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Biochemical and molecular studies of 132 patients with galactosemia.
    Ng WG; Xu YK; Kaufman FR; Donnell GN; Wolff J; Allen RJ; Koritala S; Reichardt JK
    Hum Genet; 1994 Oct; 94(4):359-63. PubMed ID: 7927329
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure.
    Grama A; Blaga L; Nicolescu A; Deleanu C; Militaru M; Căinap SS; Pop I; Tita G; Sîrbe C; Fufezan O; Vințan MA; Vulturar R; Pop TL
    Medicina (Kaunas); 2019 Apr; 55(4):. PubMed ID: 30987402
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.
    Demirbas D; Huang X; Daesety V; Feenstra S; Haskovic M; Qi W; Gubbels CS; Hecht L; Levy HL; Waisbren SE; Berry GT
    Mol Genet Metab; 2019 Apr; 126(4):368-376. PubMed ID: 30718057
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Effect of genotype on galactose-1-phosphate in classic galactosemia patients.
    Yuzyuk T; Balakrishnan B; Schwarz EL; De Biase I; Hobert J; Longo N; Mao R; Lai K; Pasquali M
    Mol Genet Metab; 2018 Nov; 125(3):258-265. PubMed ID: 30172461
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Biochemical changes and clinical outcomes in 34 patients with classic galactosemia.
    Yuzyuk T; Viau K; Andrews A; Pasquali M; Longo N
    J Inherit Metab Dis; 2018 Mar; 41(2):197-208. PubMed ID: 29350350
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.
    Haskovic M; Derks B; van der Ploeg L; Trommelen J; Nyakayiru J; van Loon LJC; Mackinnon S; Yue WW; Peake RWA; Zha L; Demirbas D; Qi W; Huang X; Berry GT; Achten J; Bierau J; Rubio-Gozalbo ME; Coelho AI
    Orphanet J Rare Dis; 2018 Nov; 13(1):212. PubMed ID: 30477550
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Early postnatal alterations in follicular stress response and survival in a mouse model of Classic Galactosemia.
    Hagen-Lillevik S; Johnson J; Lai K
    J Ovarian Res; 2022 Nov; 15(1):122. PubMed ID: 36414970
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Folate deficiency in patients with classical galactosemia: A novel finding that needs to be considered for dietary treatments.
    Çelik M; Özgün N; Akdeniz O; Fidan M; Tüzün H; İpek MŞ; Emecan M; Eminoğlu FT
    Turk J Pediatr; 2018; 60(5):540-546. PubMed ID: 30968626
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular basis and clinical presentation of classic galactosemia in a Croatian population.
    Ramadža DP; Sarnavka V; Vuković J; Fumić K; Krželj V; Lozić B; Pušeljić S; Pereira H; Silva MJ; Tavares de Almeida I; Barić I; Rivera I
    J Pediatr Endocrinol Metab; 2018 Jan; 31(1):71-75. PubMed ID: 29252199
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene.
    Viggiano E; Marabotti A; Burlina AP; Cazzorla C; D'Apice MR; Giordano L; Fasan I; Novelli G; Facchiano A; Burlina AB
    Gene; 2015 Apr; 559(2):112-8. PubMed ID: 25592817
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants.
    Sommer M; Gathof BS; Podskarbi T; Giugliani R; Kleinlein B; Shin YS
    J Inherit Metab Dis; 1995; 18(5):567-76. PubMed ID: 8598637
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.