U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 200

1.
Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia.
T M Wohlers, N C Christacos, M T Harreman, J L Fridovich-Keil
Am J Hum Genet. 1999 Feb; 64(2): 462–470. doi: 10.1086/302263
PMCID:
PMC1377755
SummaryPDF–425K
2.
Reversal of UDP-galactose 4-epimerase deficiency of human leukocytes in culture.
B Mitchell, E Haigis, B Steinmann, R Gitzelmann
Proc Natl Acad Sci U S A. 1975 Dec; 72(12): 5026–5030. doi: 10.1073/pnas.72.12.5026
PMCID:
PMC388868
SummaryPage BrowsePDF–1.0M
3.
Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase.
B B Quimby, A Alano, S Almashanu, A M DeSandro, T M Cowan, J L Fridovich-Keil
Am J Hum Genet. 1997 Sep; 61(3): 590–598. doi: 10.1086/515517
PMCID:
PMC1715948
SummaryPage BrowsePDF–1.6M
4.
Generalised uridine diphosphate galactose-4-epimerase deficiency
J Walter, R Roberts, G Besley, J Wraith, M Cleary, J Holton, R MacFaul
Arch Dis Child. 1999 Apr; 80(4): 374–376. doi: 10.1136/adc.80.4.374
PMCID:
PMC1717903
SummaryPDF–75K
5.
Comparison of Dynamics of Wildtype and V94M Human UDP-Galactose 4-Epimerase – A computational perspective on severe Epimerase-deficiency Galactosemia
David J. Timson, Steffen Lindert
Gene. Author manuscript; available in PMC 2014 Sep 10.
Published in final edited form as: Gene. 2013 Sep 10; 526(2): 318–324. Published online 2013 May 31. doi: 10.1016/j.gene.2013.05.027
PMCID:
PMC3763920
AbstractArticlePDF–1.9M
6.
Galactose Epimerase Deficiency: Expanding the Phenotype
Filipa Dias Costa, Sacha Ferdinandusse, Carla Pinto, Andrea Dias, Liesbeth Keldermans, Dulce Quelhas, Gert Matthijs, Petra A. Mooijer, Luísa Diogo, Jaak Jaeken, Paula Garcia
JIMD Rep. 2017; 37: 19–25. Published online 2017 Mar 1. doi: 10.1007/8904_2017_10
PMCID:
PMC5740041
AbstractArticlePDF–418K
7.
Epimerase-Deficiency Galactosemia Is Not a Binary Condition
Kimberly K. Openo, Jenny M. Schulz, Claudia A. Vargas, Corey S. Orton, Michael P. Epstein, Rhonda E. Schnur, Fernando Scaglia, Gerard T. Berry, Gary S. Gottesman, Can Ficicioglu, Alfred E. Slonim, Richard J. Schroer, Chunli Yu, Vanessa E. Rangel, Jennifer Keenan, Kerri Lamance, Judith L. Fridovich-Keil
Am J Hum Genet. 2006 Jan; 78(1): 89–102. Published online 2005 Nov 14. doi: 10.1086/498985
PMCID:
PMC1380226
AbstractArticlePDF–962K
8.
A Case of UDP-Galactose 4′-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway
Christopher A. Febres-Aldana, Liset Pelaez, Meredith S. Wright, Ossama M. Maher, Anthony J. Febres-Aldana, Jun Sasaki, Parul Jayakar, Anuj Jayakar, Magaly Diaz-Barbosa, Michelin Janvier, Bala Totapally, Daria Salyakina, Jorge R. Galvez-Silva
Mol Syndromol. 2020 Dec; 11(5-6): 320–329. Published online 2020 Oct 29. doi: 10.1159/000511343
PMCID:
PMC7802442
AbstractArticlePDF–1.3M
9.
Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency.
J B Holton, M G Gillett, R MacFaul, R Young
Arch Dis Child. 1981 Nov; 56(11): 885–887. doi: 10.1136/adc.56.11.885
PMCID:
PMC1627389
SummaryPage BrowsePDF–444K
10.
UDP-galactose 4′ epimerase (GALE) is essential for development of Drosophila melanogaster
Rebecca D. Sanders, Jennifer M. I. Sefton, Kenneth H. Moberg, Judith L. Fridovich-Keil
Dis Model Mech. 2010 Sep-Oct; 3(9-10): 628–638. Published online 2010 Jun 2. doi: 10.1242/dmm.005058
PMCID:
PMC2931539
AbstractArticle
11.
UDP-Galactose 4′-Epimerase Activities toward UDP-Gal and UDP-GalNAc Play Different Roles in the Development of Drosophila melanogaster
Jennifer M. I. Daenzer, Rebecca D. Sanders, Darwin Hang, Judith L. Fridovich-Keil
PLoS Genet. 2012 May; 8(5): e1002721. Published online 2012 May 24. doi: 10.1371/journal.pgen.1002721
PMCID:
PMC3359975
AbstractArticlePDF–931K
12.
Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE)
Aaron Seo, Suleyman Gulsuner, Sarah Pierce, Miri Ben-Harosh, Hanna Shalev, Tom Walsh, Tanya Krasnov, Orly Dgany, Sergei Doulatov, Hannah Tamary, Akiko Shimamura, Mary-Claire King
Hum Mol Genet. 2019 Jan 1; 28(1): 133–142. Published online 2018 Sep 20. doi: 10.1093/hmg/ddy334
PMCID:
PMC6298239
AbstractArticlePDF–6.1M
13.
The natural history of classic galactosemia: lessons from the GalNet registry
M. E. Rubio-Gozalbo, M. Haskovic, A. M. Bosch, B. Burnyte, A. I. Coelho, D. Cassiman, M. L. Couce, C. Dawson, D. Demirbas, T. Derks, F. Eyskens, M. T. Forga, S. Grunewald, J. Häberle, M. Hochuli, A. Hubert, H. H. Huidekoper, P. Janeiro, J. Kotzka, I. Knerr, P. Labrune, Y. E. Landau, J. G. Langendonk, D. Möslinger, D. Müller-Wieland, E. Murphy, K. Õunap, D. Ramadza, I. A. Rivera, S. Scholl-Buergi, K. M. Stepien, A. Thijs, C. Tran, R. Vara, G. Visser, R. Vos, M. de Vries, S. E. Waisbren, M. M. Welsink-Karssies, S. B. Wortmann, M. Gautschi, E. P. Treacy, G. T. Berry
Orphanet J Rare Dis. 2019; 14: 86. Published online 2019 Apr 27. doi: 10.1186/s13023-019-1047-z
PMCID:
PMC6486996
AbstractArticlePDF–838K
14.
Clinical and experimental advances in congenital and paediatric cataracts
Amanda Churchill, Jochen Graw
Philos Trans R Soc Lond B Biol Sci. 2011 Apr 27; 366(1568): 1234–1249. doi: 10.1098/rstb.2010.0227
PMCID:
PMC3061104
AbstractArticlePDF–567K
15.
Extensions to the Speech Disorders Classification System (SDCS)
Lawrence D. Shriberg, Marios Fourakis, Sheryl D. Hall, Heather B. Karlsson, Heather L. Lohmeier, Jane L. McSweeny, Nancy L. Potter, Alison R. Scheer-Cohen, Edythe A. Strand, Christie M. Tilkens, David L. Wilson
Clin Linguist Phon. Author manuscript; available in PMC 2011 Oct 1.
Published in final edited form as: Clin Linguist Phon. 2010 Oct; 24(10): 795–824. doi: 10.3109/02699206.2010.503006
PMCID:
PMC2941221
AbstractArticlePDF–788K
16.
Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure †
Alina Grama, Ligia Blaga, Alina Nicolescu, Călin Deleanu, Mariela Militaru, Simona Sorana Căinap, Irina Pop, Georgia Tita, Claudia Sîrbe, Otilia Fufezan, Mihaela Adela Vințan, Romana Vulturar, Tudor Lucian Pop
Medicina (Kaunas) 2019 Apr; 55(4): 91. Published online 2019 Apr 4. doi: 10.3390/medicina55040091
PMCID:
PMC6524007
AbstractArticlePDF–271K
17.
Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia
Minela Haskovic, Britt Derks, Liesbeth van der Ploeg, Jorn Trommelen, Jean Nyakayiru, Luc J. C. van Loon, Sabrina Mackinnon, Wyatt W. Yue, Roy W. A. Peake, Li Zha, Didem Demirbas, Wanshu Qi, Xiaoping Huang, Gerard T. Berry, Jelle Achten, Jörgen Bierau, M. Estela Rubio-Gozalbo, Ana I. Coelho
Orphanet J Rare Dis. 2018; 13: 212. Published online 2018 Nov 26. doi: 10.1186/s13023-018-0954-8
PMCID:
PMC6260575
AbstractArticlePDF–768K
18.
In vivo and in vitro function of human UDP-galactose 4′-epimerase variants
Thomas J. McCorvie, Jamie Wasilenko, Ying Liu, Judith L. Fridovich-Keil, David J. Timson
Biochimie. 2011 Oct; 93(10): 1747–1754. doi: 10.1016/j.biochi.2011.06.009
PMCID:
PMC3168732
AbstractArticle
19.
Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study
Rena Papachristoforou, Petros P. Petrou, Hilary Sawyer, Maggie Williams, Anthi Drousiotou
Ann Hum Genet. 2019 Sep; 83(5): 291–298. Published online 2019 Apr 17. doi: 10.1111/ahg.12318
PMCID:
PMC6766971
AbstractArticlePDF–218K
20.
Galactose Toxicity in Animals
K Lai, LJ Elsas, KJ Wierenga
IUBMB Life. Author manuscript; available in PMC 2010 Nov 1.
Published in final edited form as: IUBMB Life. 2009 Nov; 61(11): 1063–1074. doi: 10.1002/iub.262
PMCID:
PMC2788023
ArticlePDF–365K

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center