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Results: 1 to 20 of 104

Similar articles for PubMed (Select 22944367)

1.

Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations.

Boutron A, Marabotti A, Facchiano A, Cheillan D, Zater M, Oliveira C, Costa C, Labrune P, Brivet M; French Galactosemia Working Group.

Mol Genet Metab. 2012 Nov;107(3):438-47. doi: 10.1016/j.ymgme.2012.07.025. Epub 2012 Aug 6.

PMID:
22944367
2.

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. doi: 10.1007/s10545-013-9623-1. Epub 2013 Jun 8.

PMID:
23749220
3.

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 1;559(2):112-8. doi: 10.1016/j.gene.2015.01.013. Epub 2015 Jan 13.

PMID:
25592817
4.

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;15:94. doi: 10.1186/s12881-014-0094-5.

5.

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 9;411(19-20):1506-10. doi: 10.1016/j.cca.2010.06.008. Epub 2010 Jun 11.

PMID:
20547145
6.
8.
9.

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
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.

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
12.

The molecular biology of galactosemia.

Elsas LJ 2nd, Lai K.

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

PMID:
11261429
13.

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
14.

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 24;414:191-6. doi: 10.1016/j.cca.2012.09.017. Epub 2012 Sep 25.

PMID:
23022339
15.
16.

Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants.

Sommer M, Gathof BS, Podskarbi T, Giugliani R, Kleinlein B, Shin YS.

J Inherit Metab Dis. 1995;18(5):567-76.

PMID:
8598637
17.

Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.

Elsas LJ, Langley S, Steele E, Evinger J, Fridovich-Keil JL, Brown A, Singh R, Fernhoff P, Hjelm LN, Dembure PP.

Am J Hum Genet. 1995 Mar;56(3):630-9.

18.

GALT protein database, a bioinformatics resource for the management and analysis of structural features of a galactosemia-related protein and its mutants.

d'Acierno A, Facchiano A, Marabotti A.

Genomics Proteomics Bioinformatics. 2009 Jun;7(1-2):71-6. doi: 10.1016/S1672-0229(08)60035-2.

19.

Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene.

Tang M, Facchiano A, Rachamadugu R, Calderon F, Mao R, Milanesi L, Marabotti A, Lai K.

Hum Mutat. 2012 Jul;33(7):1107-15. doi: 10.1002/humu.22093. Epub 2012 Apr 30.

20.

Galactosemia: when is it a newborn screening emergency?

Berry GT.

Mol Genet Metab. 2012 May;106(1):7-11. doi: 10.1016/j.ymgme.2012.03.007. Epub 2012 Mar 21. Review.

PMID:
22483615
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