284 related articles for article (PubMed ID: 28913702)
21. 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]
22. AAV-mediated expression of galactose-1-phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts.
Brophy ML; Stansfield JC; Ahn Y; Cheng SH; Murphy JE; Bell RD
J Inherit Metab Dis; 2022 May; 45(3):481-492. PubMed ID: 34918784
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. 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]
25. 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]
26. 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]
27. 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]
28. On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).
Lin HC; Kirby LT; Ng WG; Reichardt JK
Hum Genet; 1994 Feb; 93(2):167-9. PubMed ID: 8112740
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. 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]
31. Classic Galactosemia: Clinical and Computational Characterization of a Novel
Forte G; Buonadonna AL; Pantaleo A; Fasano C; Capodiferro D; Grossi V; Sanese P; Cariola F; De Marco K; Lepore Signorile M; Manghisi A; Guglielmi AF; Simonetti S; Laforgia N; Disciglio V; Simone C
Int J Mol Sci; 2023 Dec; 24(24):. PubMed ID: 38139222
[TBL] [Abstract][Full Text] [Related]
32. Oxidative stress contributes to outcome severity in a Drosophila melanogaster model of classic galactosemia.
Jumbo-Lucioni PP; Hopson ML; Hang D; Liang Y; Jones DP; Fridovich-Keil JL
Dis Model Mech; 2013 Jan; 6(1):84-94. PubMed ID: 22773758
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. 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]
35. Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiency.
Bresolin N; Comi GP; Fortunato F; Meola G; Gallanti A; Tajana A; Velicogna M; Gonano EF; Ninfali P; Pifferi S
J Neurol; 1993 May; 240(5):272-7. PubMed ID: 8326330
[TBL] [Abstract][Full Text] [Related]
36. Prenatal diagnosis of galactose-1-phosphate uridyltransferase (GALT)-deficient galactosemia.
Elsas LJ
Prenat Diagn; 2001 Apr; 21(4):302-3. PubMed ID: 11288121
[No Abstract] [Full Text] [Related]
37. A mouse model of galactose-1-phosphate uridyl transferase deficiency.
Leslie ND; Yager KL; McNamara PD; Segal S
Biochem Mol Med; 1996 Oct; 59(1):7-12. PubMed ID: 8902187
[TBL] [Abstract][Full Text] [Related]
38. Genetic basis of galactosemia.
Reichardt JK
Hum Mutat; 1992; 1(3):190-6. PubMed ID: 1301925
[TBL] [Abstract][Full Text] [Related]
39. Evaluation of reduced activity galactose-1-phosphate uridyl transferase by combined radioisotopic assay and high-resolution isoelectric focusing.
Kelley RI; Segal S
J Lab Clin Med; 1989 Aug; 114(2):152-6. PubMed ID: 2546999
[TBL] [Abstract][Full Text] [Related]
40. Galactosemia: deletion in the 5' upstream region of the GALT gene reduces promoter efficiency.
Trbusek M; Francová H; Kozák L
Hum Genet; 2001 Jul; 109(1):117-20. PubMed ID: 11479743
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]