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Results: 19

1.

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
[PubMed - indexed for MEDLINE]
2.

The molecular biology of galactosemia.

Elsas LJ 2nd, Lai K.

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

PMID:
11261429
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

[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
[PubMed - indexed for MEDLINE]
5.

Genetic basis of galactosemia.

Reichardt JK.

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

PMID:
1301925
[PubMed - indexed for MEDLINE]
6.

Partial deficiency of galactose-1-phosphate uridyltransferase.

Gitzelmann R, Bosshard NU.

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

PMID:
7671963
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

Perinatal galactose metabolism.

Kliegman RM, Sparks JW.

J Pediatr. 1985 Dec;107(6):831-41. Review.

PMID:
3906069
[PubMed - indexed for MEDLINE]
10.

[Galactosemia].

Ohtake A, Amemiya S.

Nihon Rinsho. 2006 Sep 28;Suppl 3:215-9. Review. Japanese. No abstract available.

PMID:
17022534
[PubMed - indexed for MEDLINE]
11.

Galactosaemia and allelic variation at the galactose-1-phosphate uridyltransferase gene: a complex relationship between genotype and phenotype.

Tyfield LA.

Eur J Pediatr. 2000 Dec;159 Suppl 3:S204-7. Review.

PMID:
11216901
[PubMed - indexed for MEDLINE]
12.

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.

PMID:
21960482
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
14.

Insights into the pathogenesis of galactosemia.

Leslie ND.

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

PMID:
12704219
[PubMed - indexed for MEDLINE]
15.

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]
16.

Galactose toxicity in animals.

Lai K, Elsas LJ, Wierenga KJ.

IUBMB Life. 2009 Nov;61(11):1063-74. doi: 10.1002/iub.262. Review.

PMID:
19859980
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Ovarian function in girls and women with GALT-deficiency galactosemia.

Fridovich-Keil JL, Gubbels CS, Spencer JB, Sanders RD, Land JA, Rubio-Gozalbo E.

J Inherit Metab Dis. 2011 Apr;34(2):357-66. doi: 10.1007/s10545-010-9221-4. Epub 2010 Oct 27. Review.

PMID:
20978943
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Innovative therapy for Classic Galactosemia - tale of two HTS.

Tang M, Odejinmi SI, Vankayalapati H, Wierenga KJ, Lai K.

Mol Genet Metab. 2012 Jan;105(1):44-55. doi: 10.1016/j.ymgme.2011.09.028. Epub 2011 Oct 1. Review.

PMID:
22018723
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Fertility and impact of pregnancies on the mother and child in classic galactosemia.

Gubbels CS, Land JA, Rubio-Gozalbo ME.

Obstet Gynecol Surv. 2008 May;63(5):334-43. doi: 10.1097/OGX.0b013e31816ff6c5. Review.

PMID:
18419833
[PubMed - indexed for MEDLINE]

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