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Items: 10

1.

Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations.

Garcia DF, Camelo JS Jr, Molfetta GA, Turcato M, Souza CF, Porta G, Steiner CE, Silva WA Jr.

BMC Med Genet. 2016 May 12;17(1):39. doi: 10.1186/s12881-016-0300-8.

2.

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.

3.

Phenotype-Genotype Discrepancy Due to a 5.5-kb Deletion in the GALT Gene.

González-del Angel A, Velázquez-Aragón J, Alcántara-Ortigoza MA, Vela-Amieva M, Hernández-Martínez N.

JIMD Rep. 2012;2:1-5. doi: 10.1007/8904_2011_30. Epub 2011 Sep 6.

4.

The prevalence and clinical study of galactosemia disease in a pilot screening program of neonates, southern iran.

Senemar S, Ganjekarimi A, Senemar S, Tarami B, Bazrgar M.

Iran J Public Health. 2011 Dec;40(4):99-104. Epub 2011 Dec 31.

5.

The adult galactosemic phenotype.

Waisbren SE, Potter NL, Gordon CM, Green RC, Greenstein P, Gubbels CS, Rubio-Gozalbo E, Schomer D, Welt C, Anastasoaie V, D'Anna K, Gentile J, Guo CY, Hecht L, Jackson R, Jansma BM, Li Y, Lip V, Miller DT, Murray M, Power L, Quinn N, Rohr F, Shen Y, Skinder-Meredith A, Timmers I, Tunick R, Wessel A, Wu BL, Levy H, Elsas L, Berry GT.

J Inherit Metab Dis. 2012 Mar;35(2):279-86. doi: 10.1007/s10545-011-9372-y. Epub 2011 Jul 21.

6.

ARHI: A new target of galactose toxicity in Classic Galactosemia.

Lai K, Tang M, Yin X, Klapper H, Wierenga K, Elsas L.

Biosci Hypotheses. 2008;1(5):263-271.

7.

Simultaneous amplification, detection, and analysis of common mutations in the galactose-1-phosphate uridyl transferase gene.

Jama M, Nelson L, Pont-Kingdon G, Mao R, Lyon E.

J Mol Diagn. 2007 Nov;9(5):618-23. Epub 2007 Sep 20. Erratum in: J Mol Diagn. 2009 May;10(3):276. Pont-Kingdon, Genevieve [added].

8.

Stress by heat shock induces massive down regulation of genes and allows differential allelic expression of the Gal/GalNAc lectin in Entamoeba histolytica.

Weber C, Guigon G, Bouchier C, Frangeul L, Moreira S, Sismeiro O, Gouyette C, Mirelman D, Coppee JY, Guillén N.

Eukaryot Cell. 2006 May;5(5):871-5.

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