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Items: 1 to 20 of 152

1.

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
2.

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. doi: 10.1007/s12098-010-0348-y. Epub 2010 Dec 28. Erratum in: Indian J Pediatr. 2011 Jul;78(7):894. Kulkarni, Ketan [added].

PMID:
21188552
3.

Frequency distribution of Q188R, N314D, Duarte 1, and Duarte 2 GALT variant alleles in an Indian galactosemia population.

Singh R, Thapa BR, Kaur G, Prasad R.

Biochem Genet. 2012 Dec;50(11-12):871-80. doi: 10.1007/s10528-012-9527-z. Epub 2012 Jul 15.

PMID:
22798028
5.

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
6.

The molecular biology of galactosemia.

Elsas LJ 2nd, Lai K.

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

PMID:
11261429
7.

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
8.

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
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.
11.

Detection of common mutations in the GALT gene through ARMS.

Mahmood U, Imran M, Naik SI, Cheema HA, Saeed A, Arshad M, Mahmood S.

Gene. 2012 Nov 10;509(2):291-4. doi: 10.1016/j.gene.2012.08.010. Epub 2012 Aug 16.

PMID:
22963887
12.

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.

13.

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
14.

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.

PMID:
10649501
15.

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.

16.

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
17.
18.

Prevention of a molecular misdiagnosis in galactosemia.

Barbouth D, Slepak T, Klapper H, Lai K, Elsas LJ.

Genet Med. 2006 Mar;8(3):178-82.

PMID:
16540753
19.

Genetic basis of galactosemia.

Reichardt JK.

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

PMID:
1301925
20.

Molecular basis for Duarte and Los Angeles variant galactosemia.

Langley SD, Lai K, Dembure PP, Hjelm LN, Elsas LJ.

Am J Hum Genet. 1997 Feb;60(2):366-72.

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