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Results: 1 to 20 of 65

1.

Liquid chromatography-tandem mass spectrometry enzyme assay for UDP-galactose 4'-epimerase: use of fragment intensity ratio in differentiation of structural isomers.

Li Y, Huang X, Harmonay L, Liu Y, Kellogg MD, Fridovich-Keil JL, Berry GT.

Clin Chem. 2014 May;60(5):783-90. doi: 10.1373/clinchem.2013.219931. Epub 2014 Feb 27.

PMID:
24578239
[PubMed - indexed for MEDLINE]
2.

Galactose content of legumes, caseinates, and some hard cheeses: implications for diet treatment of classic galactosemia.

Van Calcar SC, Bernstein LE, Rohr FJ, Yannicelli S, Berry GT, Scaman CH.

J Agric Food Chem. 2014 Feb 12;62(6):1397-402. doi: 10.1021/jf404995a. Epub 2014 Feb 3.

PMID:
24456566
[PubMed - indexed for MEDLINE]
3.

Literature review and outcome of classic galactosemia diagnosed in the neonatal period.

Karadag N, Zenciroglu A, Eminoglu FT, Dilli D, Karagol BS, Kundak A, Dursun A, Hakan N, Okumus N.

Clin Lab. 2013;59(9-10):1139-46. Review.

PMID:
24273939
[PubMed - indexed for MEDLINE]
4.

Cell-based galactosemia diagnosis system based on a galactose assay using a bioluminescent Escherichia coli array.

Woo MA, Kim MI, Cho D, Park HG.

Anal Chem. 2013 Nov 19;85(22):11083-9. doi: 10.1021/ac4027912. Epub 2013 Nov 7.

PMID:
24143930
[PubMed - indexed for MEDLINE]
5.

Copper nanowires immobilized on the boards of microfluidic chips for the rapid and simultaneous diagnosis of galactosemia diseases in newborn urine samples.

García M, Alonso-Fernández JR, Escarpa A.

Anal Chem. 2013 Oct 1;85(19):9116-25. doi: 10.1021/ac402331v. Epub 2013 Sep 18.

PMID:
23998325
[PubMed - indexed for MEDLINE]
6.

Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.

Özgül RK, Güzel-Ozantürk A, Dündar H, Yücel-Yılmaz D, Coşkun T, Sivri S, Aydoǧdu S, Tokatlı A, Dursun A.

J Hum Genet. 2013 Oct;58(10):675-8. doi: 10.1038/jhg.2013.76. Epub 2013 Aug 8.

PMID:
23924834
[PubMed - indexed for MEDLINE]
7.

Fertility preservation in female classic galactosemia patients.

van Erven B, Gubbels CS, van Golde RJ, Dunselman GA, Derhaag JG, de Wert G, Geraedts JP, Bosch AM, Treacy EP, Welt CK, Berry GT, Rubio-Gozalbo ME.

Orphanet J Rare Dis. 2013 Jul 16;8:107. doi: 10.1186/1750-1172-8-107. Review.

PMID:
23866841
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Charting a seven-year trajectory of language outcomes for a child with galactosemia.

Lewis FM, Coman DJ, Syrmis M, Kilcoyne S, Murdoch BE.

J Dev Behav Pediatr. 2013 Jul-Aug;34(6):414-8. doi: 10.1097/DBP.0b013e31829a7be1. Review.

PMID:
23838587
[PubMed - indexed for MEDLINE]
9.

Impaired NADPH oxidase activity in peripheral blood lymphocytes of galactosemia patients.

Al-Essa M, Dhaunsi GS, Al-Qabandi W, Khan I.

Exp Biol Med (Maywood). 2013 Jul;238(7):779-86. doi: 10.1177/1535370213480692. Epub 2013 Jul 4.

PMID:
23828587
[PubMed - indexed for MEDLINE]
10.

Comparison of dynamics of wildtype and V94M human UDP-galactose 4-epimerase-A computational perspective on severe epimerase-deficiency galactosemia.

Timson DJ, Lindert S.

Gene. 2013 Sep 10;526(2):318-24. doi: 10.1016/j.gene.2013.05.027. Epub 2013 May 31.

PMID:
23732289
[PubMed - indexed for MEDLINE]
11.

Modifiers of ovarian function in girls and women with classic galactosemia.

Spencer JB, Badik JR, Ryan EL, Gleason TJ, Broadaway KA, Epstein MP, Fridovich-Keil JL.

J Clin Endocrinol Metab. 2013 Jul;98(7):E1257-65. doi: 10.1210/jc.2013-1374. Epub 2013 May 20.

PMID:
23690308
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

In silico prediction of the effects of mutations in the human UDP-galactose 4'-epimerase gene: towards a predictive framework for type III galactosemia.

McCorvie TJ, Timson DJ.

Gene. 2013 Jul 25;524(2):95-104. doi: 10.1016/j.gene.2013.04.061. Epub 2013 May 1.

PMID:
23644136
[PubMed - indexed for MEDLINE]
13.

Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia.

McCorvie TJ, Gleason TJ, Fridovich-Keil JL, Timson DJ.

Biochim Biophys Acta. 2013 Aug;1832(8):1279-93. doi: 10.1016/j.bbadis.2013.04.004. Epub 2013 Apr 11.

PMID:
23583749
[PubMed - indexed for MEDLINE]
14.

Static and dynamic interactions between GALK enzyme and known inhibitors: guidelines to design new drugs for galactosemic patients.

Chiappori F, Merelli I, Milanesi L, Marabotti A.

Eur J Med Chem. 2013 May;63:423-34. doi: 10.1016/j.ejmech.2013.02.021. Epub 2013 Feb 27.

PMID:
23517731
[PubMed - indexed for MEDLINE]
15.

Movement disorders in adult patients with classical galactosemia.

Rubio-Agusti I, Carecchio M, Bhatia KP, Kojovic M, Parees I, Chandrashekar HS, Footitt EJ, Burke D, Edwards MJ, Lachmann RH, Murphy E.

Mov Disord. 2013 Jun;28(6):804-10. doi: 10.1002/mds.25348. Epub 2013 Feb 11.

PMID:
23400815
[PubMed - indexed for MEDLINE]
16.

Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemia.

Ryan EL, Lynch ME, Taddeo E, Gleason TJ, Epstein MP, Fridovich-Keil JL.

J Inherit Metab Dis. 2013 Nov;36(6):1049-61. doi: 10.1007/s10545-012-9575-x. Epub 2013 Jan 15.

PMID:
23319291
[PubMed - indexed for MEDLINE]
17.

From mind to mouth: event related potentials of sentence production in classic galactosemia.

Timmers I, Jansma BM, Rubio-Gozalbo ME.

PLoS One. 2012;7(12):e52826. doi: 10.1371/journal.pone.0052826. Epub 2012 Dec 26.

PMID:
23300788
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

In search of the diagnosis, and the patient: transient galactosemia demystified after 14 years.

Lee HC, Lam CW, Yuen YP, Lai CK, Chan KY, Chan AY.

Genet Couns. 2012;23(3):415-21.

PMID:
23072191
[PubMed - indexed for MEDLINE]
19.

The male reproductive system in classic galactosemia: cryptorchidism and low semen volume.

Gubbels CS, Welt CK, Dumoulin JC, Robben SG, Gordon CM, Dunselman GA, Rubio-Gozalbo ME, Berry GT.

J Inherit Metab Dis. 2013 Sep;36(5):779-86. doi: 10.1007/s10545-012-9539-1. Epub 2012 Oct 11.

PMID:
23053469
[PubMed - indexed for MEDLINE]
20.

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
[PubMed - indexed for MEDLINE]

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