559 related articles for article (PubMed ID: 16125333)
1. 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]
2. [From gene to disease; galactosemia and galactose-1-phosphate uridyltransferase deficiency].
Bosch AM; Waterham HR; Bakker HD
Ned Tijdschr Geneeskd; 2004 Jan; 148(2):80-1. PubMed ID: 14753129
[TBL] [Abstract][Full Text] [Related]
3. UDP-galactose pyrophosphorylase in mice with galactose-1-phosphate uridyltransferase deficiency.
Leslie N; Yager C; Reynolds R; Segal S
Mol Genet Metab; 2005 May; 85(1):21-7. PubMed ID: 15862277
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Problems in the diagnosis of transferase and galactokinase deficient galactosemia.
Pesce MA; Bodourian SH
Ann Clin Lab Sci; 1980; 10(1):26-32. PubMed ID: 7362195
[TBL] [Abstract][Full Text] [Related]
7. Insights into the pathogenesis of galactosemia.
Leslie ND
Annu Rev Nutr; 2003; 23():59-80. PubMed ID: 12704219
[TBL] [Abstract][Full Text] [Related]
8. [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]
9. 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]
10. GALT deficiency causes UDP-hexose deficit in human galactosemic cells.
Lai K; Langley SD; Khwaja FW; Schmitt EW; Elsas LJ
Glycobiology; 2003 Apr; 13(4):285-94. PubMed ID: 12626383
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Molecular analysis in newborns from Texas affected with galactosemia.
Yang YP; Corley N; Garcia-Heras J
Hum Mutat; 2002 Jan; 19(1):82-3. PubMed ID: 11754113
[TBL] [Abstract][Full Text] [Related]
13. Nucleotide sugar profiles throughout development in wildtype and galt knockout zebrafish.
Haskovic M; Coelho AI; Lindhout M; Zijlstra F; Veizaj R; Vos R; Vanoevelen JM; Bierau J; Lefeber DJ; Rubio-Gozalbo ME
J Inherit Metab Dis; 2020 Sep; 43(5):994-1001. PubMed ID: 32441338
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia.
Maceratesi P; Daude N; Dallapiccola B; Novelli G; Allen R; Okano Y; Reichardt J
Mol Genet Metab; 1998 Jan; 63(1):26-30. PubMed ID: 9538513
[TBL] [Abstract][Full Text] [Related]
18. Transient kinetics of formation and reaction of the uridylyl-enzyme form of galactose-1-P uridylyltransferase and its Q168R-variant: insight into the molecular basis of galactosemia.
Geeganage S; Frey PA
Biochemistry; 1998 Oct; 37(41):14500-7. PubMed ID: 9772178
[TBL] [Abstract][Full Text] [Related]
19. Sweet and sour: an update on classic galactosemia.
Coelho AI; Rubio-Gozalbo ME; Vicente JB; Rivera I
J Inherit Metab Dis; 2017 May; 40(3):325-342. PubMed ID: 28281081
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
