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2. 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]
3. [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]
4. Molecular characterization of galactosemia (type 1) mutations in Japanese. Ashino J; Okano Y; Suyama I; Yamazaki T; Yoshino M; Furuyama J; Lin HC; Reichardt JK; Isshiki G Hum Mutat; 1995; 6(1):36-43. PubMed ID: 7550229 [TBL] [Abstract][Full Text] [Related]
5. Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R). Kozák L; Francová H; Fajkusová L; Pijácková A; Macku J; Stastná S; Peskovová K; Martincová O; Krijt J; Bzdúch V Hum Mutat; 2000 Feb; 15(2):206. PubMed ID: 10649501 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene. Calderon FR; Phansalkar AR; Crockett DK; Miller M; Mao R Hum Mutat; 2007 Oct; 28(10):939-43. PubMed ID: 17486650 [TBL] [Abstract][Full Text] [Related]
9. Genetic basis of galactosemia. Reichardt JK Hum Mutat; 1992; 1(3):190-6. PubMed ID: 1301925 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
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 basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients. Hirokawa H; Okano Y; Asada M; Fujimoto A; Suyama I; Isshiki G Eur J Hum Genet; 1999; 7(7):757-64. PubMed ID: 10573007 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity. Choi R; Jo KI; Ko DH; Lee DH; Song J; Jin DK; Ki CS; Lee SY; Kim JW; Lee YW; Park HD BMC Med Genet; 2014 Aug; 15():94. PubMed ID: 25124065 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]