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Items: 1 to 20 of 193

1.

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
2.

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
3.

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.

PMID:
8112740
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.

PMID:
16765930
6.

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
7.
8.

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
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.

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
11.

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.

12.

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
13.

The molecular biology of galactosemia.

Elsas LJ 2nd, Lai K.

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

PMID:
11261429
14.
15.

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
16.

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
17.

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
19.

Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase (GALT) gene.

Coffee B, Hjelm LN, DeLorenzo A, Courtney EM, Yu C, Muralidharan K.

Genet Med. 2006 Oct;8(10):635-40.

PMID:
17079880
20.

Molecular analysis of 11 galactosemia patients.

Reichardt JK.

Nucleic Acids Res. 1991 Dec;19(25):7049-52.

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