431 related articles for article (PubMed ID: 30172461)
1. 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]
2. 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]
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. Novel mRNA-Based Therapy Reduces Toxic Galactose Metabolites and Overcomes Galactose Sensitivity in a Mouse Model of Classic Galactosemia.
Balakrishnan B; An D; Nguyen V; DeAntonis C; Martini PGV; Lai K
Mol Ther; 2020 Jan; 28(1):304-312. PubMed ID: 31604675
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia.
Liu Y; Sidhu A; Bean LH; Conway RL; Fridovich-Keil JL
Clin Chim Acta; 2015 Jun; 446():171-4. PubMed ID: 25920691
[TBL] [Abstract][Full Text] [Related]
8. A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.
Coelho AI; Ramos R; Gaspar A; Costa C; Oliveira A; Diogo L; Garcia P; Paiva S; Martins E; Teles EL; Rodrigues E; Cardoso MT; Ferreira E; Sequeira S; Leite M; Silva MJ; de Almeida IT; Vicente JB; Rivera I
J Inherit Metab Dis; 2014 Jan; 37(1):43-52. PubMed ID: 23749220
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. The molecular biology of galactosemia.
Elsas LJ; Lai K
Genet Med; 1998; 1(1):40-8. PubMed ID: 11261429
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. A galactose-1-phosphate uridylyltransferase-null rat model of classic galactosemia mimics relevant patient outcomes and reveals tissue-specific and longitudinal differences in galactose metabolism.
Rasmussen SA; Daenzer JMI; MacWilliams JA; Head ST; Williams MB; Geurts AM; Schroeder JP; Weinshenker D; Fridovich-Keil JL
J Inherit Metab Dis; 2020 May; 43(3):518-528. PubMed ID: 31845342
[TBL] [Abstract][Full Text] [Related]
14. [Clinical and biochemical diagnosis of galactosemia among our cases].
Bozkowa K; Zbieg-Sendecka E; Grodzka Z; Cabalska B
Probl Med Wieku Rozwoj; 1979; 8():63-9. PubMed ID: 263527
[TBL] [Abstract][Full Text] [Related]
15. Transient developmental delays in infants with Duarte-2 variant galactosemia.
Waisbren SE; Tran C; Demirbas D; Gubbels CS; Hsiao M; Daesety V; Berry GT
Mol Genet Metab; 2021; 134(1-2):132-138. PubMed ID: 34391645
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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]
19. The natural history of classic galactosemia: lessons from the GalNet registry.
Rubio-Gozalbo ME; Haskovic M; Bosch AM; Burnyte B; Coelho AI; Cassiman D; Couce ML; Dawson C; Demirbas D; Derks T; Eyskens F; Forga MT; Grunewald S; Häberle J; Hochuli M; Hubert A; Huidekoper HH; Janeiro P; Kotzka J; Knerr I; Labrune P; Landau YE; Langendonk JG; Möslinger D; Müller-Wieland D; Murphy E; Õunap K; Ramadza D; Rivera IA; Scholl-Buergi S; Stepien KM; Thijs A; Tran C; Vara R; Visser G; Vos R; de Vries M; Waisbren SE; Welsink-Karssies MM; Wortmann SB; Gautschi M; Treacy EP; Berry GT
Orphanet J Rare Dis; 2019 Apr; 14(1):86. PubMed ID: 31029175
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]