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2. Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase. Reichardt JK; Packman S; Woo SL Am J Hum Genet; 1991 Oct; 49(4):860-7. PubMed ID: 1897530 [TBL] [Abstract][Full Text] [Related]
3. Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase. Reichardt JK; Woo SL Proc Natl Acad Sci U S A; 1991 Apr; 88(7):2633-7. PubMed ID: 2011574 [TBL] [Abstract][Full Text] [Related]
4. The fundamental importance of human galactose metabolism: lessons from genetics and biochemistry. Petry KG; Reichardt JK Trends Genet; 1998 Mar; 14(3):98-102. PubMed ID: 9540406 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. A case of classical galactosemia: identification and characterization of 3 distinct mutations in galactose-1-phosphate uridyl transferase (GALT) gene in a single family. Singh R; Kaur G; Thapa BR; Prasad R; Kulkarni K Indian J Pediatr; 2011 Jul; 78(7):874-6. PubMed ID: 21188552 [TBL] [Abstract][Full Text] [Related]
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8. [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]
10. Genetic basis of galactosemia. Reichardt JK Hum Mutat; 1992; 1(3):190-6. PubMed ID: 1301925 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis. Greber-Platzer S; Guldberg P; Scheibenreiter S; Item C; Schuller E; Patel N; Strobl W Hum Mutat; 1997; 10(1):49-57. PubMed ID: 9222760 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. Galactose-1-phosphate uridyl transferase deficiency due to Duarte/galactosemia combined variation: clinical and biochemical studies. Levy HL; Sepe SJ; Walton DS; Shih VE; Hammersen G; Houghton S; Beutler E J Pediatr; 1978 Mar; 92(3):390-3. PubMed ID: 632977 [TBL] [Abstract][Full Text] [Related]
15. Simulation of the Interactions of Arginine with Wild-Type GALT Enzyme and the Classic Galactosemia-Related Mutant p.Q188R by a Computational Approach. Verdino A; D'Urso G; Tammone C; Scafuri B; Catapano L; Marabotti A Molecules; 2021 Oct; 26(19):. PubMed ID: 34641605 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase. Reichardt JK; Levy HL; Woo SL Biochemistry; 1992 Jun; 31(24):5430-3. PubMed ID: 1610789 [TBL] [Abstract][Full Text] [Related]
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19. 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]
20. 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] [Next] [New Search]