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Items: 1 to 20 of 28

1.

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
2.

The molecular biology of galactosemia.

Elsas LJ 2nd, Lai K.

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

PMID:
11261429
4.

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
5.

Genetic basis of galactosemia.

Reichardt JK.

Hum Mutat. 1992;1(3):190-6. Review.

PMID:
1301925
6.

Structural and molecular biology of type I galactosemia: disease-associated mutations.

McCorvie TJ, Timson DJ.

IUBMB Life. 2011 Nov;63(11):949-54. doi: 10.1002/iub.510. Epub 2011 Sep 30. Review.

7.

Classical galactosaemia in Chinese: A case report and review of disease incidence.

Cheung KL, Tang NL, Hsiao KJ, Law LK, Wong W, Ng PC, Pang CP, Applegarth DA, Fok TF, Hjelm NM.

J Paediatr Child Health. 1999 Aug;35(4):399-400. Review.

PMID:
10457302
8.

[From gene to disease; galactosemia and galactose-1-phosphate uridyltransferase deficiency].

Bosch AM, Waterham HR, Bakker HD.

Ned Tijdschr Geneeskd. 2004 Jan 10;148(2):80-1. Review. Dutch. Erratum in: Ned Tijdschr Geneeskd. 2004 Feb 7;148(6):300.

PMID:
14753129
9.

Molecular basis of disorders of human galactose metabolism: past, present, and future.

Novelli G, Reichardt JK.

Mol Genet Metab. 2000 Sep-Oct;71(1-2):62-5. Review.

PMID:
11001796
10.

Regulation of galactose-1-phosphate uridyltransferase gene expression.

Heidenreich RA.

Eur J Pediatr. 1995;154(7 Suppl 2):S28-32. Review.

PMID:
7671960
11.

The fundamental importance of human galactose metabolism: lessons from genetics and biochemistry.

Petry KG, Reichardt JK.

Trends Genet. 1998 Mar;14(3):98-102. Review.

PMID:
9540406
12.

Duarte Variant Galactosemia.

Fridovich-Keil JL, Gambello MJ, Singh RH, Sharer JD.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2014 Dec 04.

13.

Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia?

Berry GT.

J Inherit Metab Dis. 2011 Apr;34(2):345-55. doi: 10.1007/s10545-010-9260-x. Epub 2011 Jan 19. Review. Erratum in: J Inherit Metab Dis. 2011 Apr;34(2):555.

PMID:
21246399
14.

The structural and molecular biology of type I galactosemia: Enzymology of galactose 1-phosphate uridylyltransferase.

McCorvie TJ, Timson DJ.

IUBMB Life. 2011 Sep;63(9):694-700. doi: 10.1002/iub.511. Epub 2011 Jul 25. Review.

15.

Partial deficiency of galactose-1-phosphate uridyltransferase.

Gitzelmann R, Bosshard NU.

Eur J Pediatr. 1995;154(7 Suppl 2):S40-4. Review.

PMID:
7671963
16.

Genetic contribution to variable human CYP3A-mediated metabolism.

Lamba JK, Lin YS, Schuetz EG, Thummel KE.

Adv Drug Deliv Rev. 2002 Nov 18;54(10):1271-94. Review.

PMID:
12406645
17.

[Galactosemia: a problem still unsolved].

Szczypka M.

Pediatr Pol. 1996 Jun;71(6):487-92. Review. Polish.

PMID:
8756765
18.

GALT protein database: querying structural and functional features of GALT enzyme.

d'Acierno A, Facchiano A, Marabotti A.

Hum Mutat. 2014 Sep;35(9):1060-7. doi: 10.1002/humu.22613. Epub 2014 Jul 23. Review.

PMID:
24990533
19.

Insights into the pathogenesis of galactosemia.

Leslie ND.

Annu Rev Nutr. 2003;23:59-80. Epub 2003 Apr 9. Review.

PMID:
12704219
20.

The yeast, Saccharomyces cerevisiae, as a model system for the study of human genetic disease.

Wells L, Fridovich-Keil JL.

SAAS Bull Biochem Biotechnol. 1996;9:83-8. Review.

PMID:
8652137
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