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Items: 1 to 20 of 150

1.

N- and O-linked glycosylation of total plasma glycoproteins in galactosemia.

Liu Y, Xia B, Gleason TJ, CastaƱeda U, He M, Berry GT, Fridovich-Keil JL.

Mol Genet Metab. 2012 Aug;106(4):442-54. doi: 10.1016/j.ymgme.2012.05.025. Epub 2012 Jun 12.

2.

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
3.

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.

4.

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.

5.

Differential glycomics of epithelial membrane glycoproteins from urinary exovesicles reveals shifts toward complex-type N-glycosylation in classical galactosemia.

Staubach S, Schadewaldt P, Wendel U, Nohroudi K, Hanisch FG.

J Proteome Res. 2012 Feb 3;11(2):906-16. doi: 10.1021/pr200711w. Epub 2011 Dec 2.

PMID:
22087537
7.

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
8.

A Drosophila melanogaster model of classic galactosemia.

Kushner RF, Ryan EL, Sefton JM, Sanders RD, Lucioni PJ, Moberg KH, Fridovich-Keil JL.

Dis Model Mech. 2010 Sep-Oct;3(9-10):618-27. doi: 10.1242/dmm.005041. Epub 2010 Jun 2.

9.

Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.

Sturiale L, Barone R, Fiumara A, Perez M, Zaffanello M, Sorge G, Pavone L, Tortorelli S, O'Brien JF, Jaeken J, Garozzo D.

Glycobiology. 2005 Dec;15(12):1268-76. Epub 2005 Jul 21.

PMID:
16037488
10.

Oxidative stress contributes to outcome severity in a Drosophila melanogaster model of classic galactosemia.

Jumbo-Lucioni PP, Hopson ML, Hang D, Liang Y, Jones DP, Fridovich-Keil JL.

Dis Model Mech. 2013 Jan;6(1):84-94. doi: 10.1242/dmm.010207. Epub 2012 Jul 5.

11.
12.

Galactose oxidation using (13)C in healthy and galactosemic children.

Resende-Campanholi DR, Porta G, Ferrioli E, Pfrimer K, Ciampo LA, Junior JS.

Braz J Med Biol Res. 2015 Mar;48(3):280-5. doi: 10.1590/1414-431X20144362. Epub 2015 Jan 20.

13.
14.

Endogenous galactose formation in galactose-1-phosphate uridyltransferase deficiency.

Schadewaldt P, Kamalanathan L, Hammen HW, Kotzka J, Wendel U.

Arch Physiol Biochem. 2014 Dec;120(5):228-39. doi: 10.3109/13813455.2014.962547. Epub 2014 Sep 30.

PMID:
25268296
15.

GALT deficiency causes UDP-hexose deficit in human galactosemic cells.

Lai K, Langley SD, Khwaja FW, Schmitt EW, Elsas LJ.

Glycobiology. 2003 Apr;13(4):285-94. Epub 2003 Jan 3.

PMID:
12626383
16.

A yeast expression system for human galactose-1-phosphate uridylyltransferase.

Fridovich-Keil JL, Jinks-Robertson S.

Proc Natl Acad Sci U S A. 1993 Jan 15;90(2):398-402.

17.

Coordinated movement, neuromuscular synaptogenesis and trans-synaptic signaling defects in Drosophila galactosemia models.

Jumbo-Lucioni PP, Parkinson WM, Kopke DL, Broadie K.

Hum Mol Genet. 2016 Sep 1;25(17):3699-3714. doi: 10.1093/hmg/ddw217. Epub 2016 Jul 27.

18.

Galactose intolerance in individuals with double heterozygosity for Duarte variant and galactosemia.

Schwarz HP, Zuppinger KA, Zimmerman A, Dauwalder H, Scherz R, Bier DM.

J Pediatr. 1982 May;100(5):704-9.

PMID:
7069531
19.

Sweet and sour: an update on classic galactosemia.

Coelho AI, Rubio-Gozalbo ME, Vicente JB, Rivera I.

J Inherit Metab Dis. 2017 May;40(3):325-342. doi: 10.1007/s10545-017-0029-3. Epub 2017 Mar 9. Review.

20.

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