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Items: 1 to 20 of 287

1.

Galactosaemia: early treatment with an elemental formula.

Zlatunich CO, Packman S.

J Inherit Metab Dis. 2005;28(2):163-8.

PMID:
15877205
2.

Effect of galactose free formula on galactose-1-phosphate in two infants with classical galactosemia.

Ficicioglu C, Hussa C, Yager C, Segal S.

Eur J Pediatr. 2008 May;167(5):595-6. No abstract available.

PMID:
17554561
3.

Biochemical monitoring of treatment for galactosaemia: biological variability in metabolite concentrations.

Hutchesson AC, Murdoch-Davis C, Green A, Preece MA, Allen J, Holton JB, Rylance G.

J Inherit Metab Dis. 1999 Apr;22(2):139-48.

PMID:
10234609
4.

Classical galactosaemia revisited.

Bosch AM.

J Inherit Metab Dis. 2006 Aug;29(4):516-25. Review.

PMID:
16838075
5.

Monitoring of biochemical status in children with Duarte galactosemia: utility of galactose, galactitol, galactonate, and galactose 1-phosphate.

Ficicioglu C, Hussa C, Gallagher PR, Thomas N, Yager C.

Clin Chem. 2010 Jul;56(7):1177-82. doi: 10.1373/clinchem.2010.144097.

6.

Outcomes of siblings with classical galactosemia.

Hughes J, Ryan S, Lambert D, Geoghegan O, Clark A, Rogers Y, Hendroff U, Monavari A, Twomey E, Treacy EP.

J Pediatr. 2009 May;154(5):721-6. doi: 10.1016/j.jpeds.2008.11.052.

PMID:
19181333
7.
8.

Pregnancy and lactation in a woman with classical galactosaemia heterozygous for p.Q188R and p.R333W.

Ohlsson A, Nasiell J, von Döbeln U.

J Inherit Metab Dis. 2007 Feb;30(1):105.

PMID:
17143577
9.

Deficit of uridine diphosphate galactose in galactosaemia.

Ng WG, Xu YK, Kaufman FR, Donnell GN.

J Inherit Metab Dis. 1989;12(3):257-66.

PMID:
2515367
11.

High tolerance for oral galactose in classical galactosaemia: dietary implications.

Bosch AM, Bakker HD, Wenniger-Prick LJ, Wanders RJ, Wijburg FA.

Arch Dis Child. 2004 Nov;89(11):1034-6.

12.

Ophthalmic findings in classical galactosaemia--prospective study.

Beigi B, O'Keefe M, Bowell R, Naughten E, Badawi N, Lanigan B.

Br J Ophthalmol. 1993 Mar;77(3):162-4.

13.

The effect of diet on Paraoxonase 1/Arylesterase activities in patients with disorders of galactose metabolism.

Schulpis KH, Karikas GA, Bartzeliotou A, Papakonstantinou ED, Kalogerakou M, Tsakiris S.

Clin Endocrinol (Oxf). 2007 Nov;67(5):687-92.

PMID:
17593248
14.

Galactitol and galactonate in red blood cells of children with the Duarte/galactosemia genotype.

Ficicioglu C, Yager C, Segal S.

Mol Genet Metab. 2005 Feb;84(2):152-9.

PMID:
15670721
15.
16.

Stable-isotope dilution analysis of galactose metabolites in human erythrocytes.

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

Rapid Commun Mass Spectrom. 2003;17(24):2833-8.

PMID:
14673834
17.

Long-term outcome in 134 patients with galactosaemia.

Schweitzer S, Shin Y, Jakobs C, Brodehl J.

Eur J Pediatr. 1993 Jan;152(1):36-43.

PMID:
8444204
18.

Galactose metabolism in mice with galactose-1-phosphate uridyltransferase deficiency: sucklings and 7-week-old animals fed a high-galactose diet.

Ning C, Reynolds R, Chen J, Yager C, Berry GT, Leslie N, Segal S.

Mol Genet Metab. 2001 Apr;72(4):306-15.

PMID:
11286504
19.

Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency.

Holton JB, Gillett MG, MacFaul R, Young R.

Arch Dis Child. 1981 Nov;56(11):885-7.

20.

Galactose-1-phosphate in the pathophysiology of galactosemia.

Gitzelmann R.

Eur J Pediatr. 1995;154(7 Suppl 2):S45-9. Review.

PMID:
7671964
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