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Items: 1 to 20 of 196

2.

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 1;88(7):2633-7. Erratum in: Proc Natl Acad Sci U S A 1991 Aug 15;88(16):7457.

3.
4.

Genetic basis of galactosemia.

Reichardt JK.

Hum Mutat. 1992;1(3):190-6. Review.

PMID:
1301925
5.
7.

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.

PMID:
11286503
8.

A prevalent mutation for galactosemia among black Americans.

Lai K, Langley SD, Singh RH, Dembure PP, Hjelm LN, Elsas LJ 2nd.

J Pediatr. 1996 Jan;128(1):89-95.

PMID:
8551426
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.

PMID:
16765930
10.

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.

PMID:
7550229
11.

Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.

Tyfield L, Reichardt J, Fridovich-Keil J, Croke DT, Elsas LJ 2nd, Strobl W, Kozak L, Coskun T, Novelli G, Okano Y, Zekanowski C, Shin Y, Boleda MD.

Hum Mutat. 1999;13(6):417-30. Review.

PMID:
10408771
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.

PMID:
9222760
13.

Identification of novel mutations in classical galactosemia.

Bosch AM, Ijlst L, Oostheim W, Mulders J, Bakker HD, Wijburg FA, Wanders RJ, Waterham HR.

Hum Mutat. 2005 May;25(5):502.

PMID:
15841485
14.

Molecular and biochemical basis of galactosemia.

Wang BB, Xu YK, Ng WG, Wong LJ.

Mol Genet Metab. 1998 Apr;63(4):263-9.

PMID:
9635294
15.

The human galactose-1-phosphate uridyltransferase gene.

Leslie ND, Immerman EB, Flach JE, Florez M, Fridovich-Keil JL, Elsas LJ.

Genomics. 1992 Oct;14(2):474-80.

PMID:
1427861
16.

The molecular biology of galactosemia.

Elsas LJ 2nd, Lai K.

Genet Med. 1998 Nov-Dec;1(1):40-8. Review.

PMID:
11261429
17.

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.

PMID:
17486650
18.

Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency.

Maceratesi P, Sangiuolo F, Novelli G, Ninfali P, Magnani M, Reichardt JK, Dallapiccola B.

Hum Mutat. 1996;8(4):369-72. No abstract available.

PMID:
8956044
19.

Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach.

Facchiano A, Marabotti A.

Protein Eng Des Sel. 2010 Feb;23(2):103-13. doi: 10.1093/protein/gzp076. Epub 2009 Dec 11.

PMID:
20008339
20.

Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene.

Calderon FR, Nelson L, Dobrowolski P, Sinitsyna I, Phansalkar A, Longo N, Pasquali M, Mao R.

J Inherit Metab Dis. 2007 Oct;30(5):818. Epub 2007 Sep 17.

PMID:
17876724

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