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Results: 1 to 20 of 66

PubMed Links for Books (Select 1465820)

1.

Motor and speech disorders in classic galactosemia.

Potter NL, Nievergelt Y, Shriberg LD.

JIMD Rep. 2013;11:31-41. doi: 10.1007/8904_2013_219. Epub 2013 Apr 2.

2.

A rare galactosemia complication: vitreous hemorrhage.

Takci S, Kadayifcilar S, Coskun T, Yigit S, Hismi B.

JIMD Rep. 2012;5:89-93. doi: 10.1007/8904_2011_103. Epub 2011 Dec 11.

3.

Movement disorders in adult patients with classical galactosemia.

Rubio-Agusti I, Carecchio M, Bhatia KP, Kojovic M, Parees I, Chandrashekar HS, Footitt EJ, Burke D, Edwards MJ, Lachmann RH, Murphy E.

Mov Disord. 2013 Jun;28(6):804-10. doi: 10.1002/mds.25348. Epub 2013 Feb 11.

PMID:
23400815
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.

The male reproductive system in classic galactosemia: cryptorchidism and low semen volume.

Gubbels CS, Welt CK, Dumoulin JC, Robben SG, Gordon CM, Dunselman GA, Rubio-Gozalbo ME, Berry GT.

J Inherit Metab Dis. 2013 Sep;36(5):779-86. doi: 10.1007/s10545-012-9539-1. Epub 2012 Oct 11.

PMID:
23053469
6.

Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment.

Coss KP, Doran PP, Owoeye C, Codd MB, Hamid N, Mayne PD, Crushell E, Knerr I, Monavari AA, Treacy EP.

J Inherit Metab Dis. 2013 Jan;36(1):21-7. doi: 10.1007/s10545-012-9507-9. Epub 2012 Jul 3.

PMID:
22870861
7.

Problems with the new born screen for galactosaemia.

Malone JI, Diaz-Thomas A, Swan K.

BMJ Case Rep. 2011 Jun 3;2011. pii: bcr0120113769. doi: 10.1136/bcr.01.2011.3769.

8.

Skeletal health in adult patients with classic galactosemia.

Batey LA, Welt CK, Rohr F, Wessel A, Anastasoaie V, Feldman HA, Guo CY, Rubio-Gozalbo E, Berry G, Gordon CM.

Osteoporos Int. 2013 Feb;24(2):501-9. doi: 10.1007/s00198-012-1983-0. Epub 2012 Apr 19.

PMID:
22525982
9.

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
10.

Living situation, occupation and health-related quality of life in adult patients with classic galactosemia.

Hoffmann B, Dragano N, Schweitzer-Krantz S.

J Inherit Metab Dis. 2012 Nov;35(6):1051-8. doi: 10.1007/s10545-012-9469-y. Epub 2012 Mar 24.

PMID:
22447152
11.

IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia.

Coss KP, Byrne JC, Coman DJ, Adamczyk B, Abrahams JL, Saldova R, Brown AY, Walsh O, Hendroff U, Carolan C, Rudd PM, Treacy EP.

Mol Genet Metab. 2012 Feb;105(2):212-20. doi: 10.1016/j.ymgme.2011.10.018. Epub 2011 Nov 7.

PMID:
22133299
12.

The adult galactosemic phenotype.

Waisbren SE, Potter NL, Gordon CM, Green RC, Greenstein P, Gubbels CS, Rubio-Gozalbo E, Schomer D, Welt C, Anastasoaie V, D'Anna K, Gentile J, Guo CY, Hecht L, Jackson R, Jansma BM, Li Y, Lip V, Miller DT, Murray M, Power L, Quinn N, Rohr F, Shen Y, Skinder-Meredith A, Timmers I, Tunick R, Wessel A, Wu BL, Levy H, Elsas L, Berry GT.

J Inherit Metab Dis. 2012 Mar;35(2):279-86. doi: 10.1007/s10545-011-9372-y. Epub 2011 Jul 21.

13.

Long-term complications in Estonian galactosemia patients with a less strict lactose-free diet and metabolic control.

Krabbi K, Uudelepp ML, Joost K, Zordania R, ├Ľunap K.

Mol Genet Metab. 2011 Jul;103(3):249-53. doi: 10.1016/j.ymgme.2011.03.023. Epub 2011 Apr 2.

PMID:
21501963
14.

Cross-sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia.

Hoffmann B, Wendel U, Schweitzer-Krantz S.

J Inherit Metab Dis. 2011 Apr;34(2):421-7. doi: 10.1007/s10545-011-9297-5. Epub 2011 Feb 24.

PMID:
21347587
15.

Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life.

ten Hoedt AE, Maurice-Stam H, Boelen CC, Rubio-Gozalbo ME, van Spronsen FJ, Wijburg FA, Bosch AM, Grootenhuis MA.

J Inherit Metab Dis. 2011 Apr;34(2):391-8. doi: 10.1007/s10545-010-9267-3. Epub 2011 Feb 3.

16.

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
17.

Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia.

Berry GT, Elsas LJ.

J Inherit Metab Dis. 2011 Apr;34(2):249-55. doi: 10.1007/s10545-010-9232-1. Epub 2010 Nov 30. No abstract available.

PMID:
21116719
18.

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.

19.

FSH isoform pattern in classic galactosemia.

Gubbels CS, Thomas CM, Wodzig WK, Olthaar AJ, Jaeken J, Sweep FC, Rubio-Gozalbo ME.

J Inherit Metab Dis. 2011 Apr;34(2):387-90. doi: 10.1007/s10545-010-9180-9. Epub 2010 Sep 3.

20.

Molecular and biochemical characterization of human galactokinase and its small molecule inhibitors.

Tang M, Wierenga K, Elsas LJ, Lai K.

Chem Biol Interact. 2010 Dec 5;188(3):376-85. doi: 10.1016/j.cbi.2010.07.025. Epub 2010 Aug 7.

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