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Items: 1 to 20 of 247

1.

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
2.

The molecular biology of galactosemia.

Elsas LJ 2nd, Lai K.

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

PMID:
11261429
3.
4.

Classic Galactosemia and Clinical Variant Galactosemia.

Berry GT.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2000 Feb 4 [updated 2017 Mar 9].

5.

Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes.

Berry GT, Singh RH, Mazur AT, Guerrero N, Kennedy MJ, Chen J, Reynolds R, Palmieri MJ, Klein PD, Segal S, Elsas LJ 2nd.

Pediatr Res. 2000 Sep;48(3):323-8.

PMID:
10960497
6.

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
7.

Newborn screening for galactosemia: a review of 5 years of data and audit of a revised reporting approach.

Freer DE, Ficicioglu C, Finegold D.

Clin Chem. 2010 Mar;56(3):437-44. doi: 10.1373/clinchem.2009.135947. Epub 2010 Jan 14.

8.

Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia.

Liu Y, Sidhu A, Bean LH, Conway RL, Fridovich-Keil JL.

Clin Chim Acta. 2015 Jun 15;446:171-4. doi: 10.1016/j.cca.2015.04.030. Epub 2015 Apr 25.

9.

Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia.

Palmieri M, Mazur A, Berry GT, Ning C, Wehrli S, Yager C, Reynolds R, Singh R, Muralidharan K, Langley S, Elsas L 2nd, Segal S.

Metabolism. 1999 Oct;48(10):1294-302.

PMID:
10535394
10.

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
11.

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
12.

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
13.

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
14.

Quantitative assessment of whole body galactose metabolism in galactosemic patients.

Berry GT, Nissim I, Gibson JB, Mazur AT, Lin Z, Elsas LJ, Singh RH, Klein PD, Segal S.

Eur J Pediatr. 1997 Aug;156 Suppl 1:S43-9.

PMID:
9266215
15.

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
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.

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
18.

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
19.

Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test.

Item C, Hagerty BP, Mühl A, Greber-Platzer S, Stöckler-Ipsiroglu S, Strobl W.

Pediatr Res. 2002 Apr;51(4):511-6.

PMID:
11919338
20.

Biochemical and molecular studies of 132 patients with galactosemia.

Ng WG, Xu YK, Kaufman FR, Donnell GN, Wolff J, Allen RJ, Koritala S, Reichardt JK.

Hum Genet. 1994 Oct;94(4):359-63.

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