These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
6. [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]
7. 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]
8. 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]
9. Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia. Elsas LJ; Lai K; Saunders CJ; Langley SD Mol Genet Metab; 2001 Apr; 72(4):297-305. PubMed ID: 11286503 [TBL] [Abstract][Full Text] [Related]
10. Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase in human lymphoblasts. Lai K; Langley SD; Dembure PP; Hjelm LN; Elsas LJ Hum Mutat; 1998; 11(1):28-38. PubMed ID: 9450900 [TBL] [Abstract][Full Text] [Related]
11. Galactosemia caused by a point mutation that activates cryptic donor splice site in the galactose-1-phosphate uridyltransferase gene. Wadelius C; Lagerkvist A; Molin AK; Larsson A; von Döbeln U; Pettersson U Genomics; 1993 Aug; 17(2):525-6. PubMed ID: 8406510 [No Abstract] [Full Text] [Related]
12. 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]
13. Screening newborns for galactosemia using total body galactose oxidation to CO2 in expired air. Barbouth DS; Velazquez DL; Konopka S; Wilkinson JJ; Carver VH; Elsas LJ Pediatr Res; 2007 Dec; 62(6):720-4. PubMed ID: 17957157 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. Evidence for function of UDP galactose pyrophosphorylase in mice with absent galactose-1-phosphate uridyltransferase. Wehrli S; Reynolds R; Segal S Mol Genet Metab; 2007 Jun; 91(2):191-4. PubMed ID: 17433749 [TBL] [Abstract][Full Text] [Related]
18. Intracellular galactose-1-phosphate accumulation leads to environmental stress response in yeast model. Slepak T; Tang M; Addo F; Lai K Mol Genet Metab; 2005 Nov; 86(3):360-71. PubMed ID: 16169270 [TBL] [Abstract][Full Text] [Related]
19. 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]
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]