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Results: 1 to 20 of 66

Select item 230721911.

In search of the diagnosis, and the patient: transient galactosemia demystified after 14 years.

Lee HC, Lam CW, Yuen YP, Lai CK, Chan KY, Chan AY.

Genet Couns. 2012;23(3):415-21.

PMID:: 23072191; [PubMed - indexed for MEDLINE]

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Select item 230223392.

Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel mutations and their structural and functional implications.

Singh R, Thapa BR, Kaur G, Prasad R.

Clin Chim Acta. 2012 Dec 24;414:191-6. doi: 10.1016/j.cca.2012.09.017. Epub 2012 Sep 25.

PMID:: 23022339; [PubMed - indexed for MEDLINE]

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Select item 229922163.

A case of galactosemia misdiagnosed as cow's milk intolerance.

Della Casa R, Ungaro C, Acampora E, Pignata C, Vajro P, Salerno M, Santamaria F, Parenti G.

Ital J Pediatr. 2012 Sep 19;38:47. doi: 10.1186/1824-7288-38-47.

PMID:: 22992216; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 229638874.

Detection of common mutations in the GALT gene through ARMS.

Mahmood U, Imran M, Naik SI, Cheema HA, Saeed A, Arshad M, Mahmood S.

Gene. 2012 Nov 10;509(2):291-4. doi: 10.1016/j.gene.2012.08.010. Epub 2012 Aug 16.

PMID:: 22963887; [PubMed - indexed for MEDLINE]

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Select item 229443675.

Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations.

Boutron A, Marabotti A, Facchiano A, Cheillan D, Zater M, Oliveira C, Costa C, Labrune P, Brivet M; French Galactosemia Working Group.

Mol Genet Metab. 2012 Nov;107(3):438-47. doi: 10.1016/j.ymgme.2012.07.025. Epub 2012 Aug 6.

PMID:: 22944367; [PubMed - indexed for MEDLINE]

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Select item 227980286.

Frequency distribution of Q188R, N314D, Duarte 1, and Duarte 2 GALT variant alleles in an Indian galactosemia population.

Singh R, Thapa BR, Kaur G, Prasad R.

Biochem Genet. 2012 Dec;50(11-12):871-80. doi: 10.1007/s10528-012-9527-z. Epub 2012 Jul 15.

PMID:: 22798028; [PubMed - indexed for MEDLINE]

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Select item 227737587.

Oxidative stress contributes to outcome severity in a Drosophila melanogaster model of classic galactosemia.

Jumbo-Lucioni PP, Hopson ML, Hang D, Liang Y, Jones DP, Fridovich-Keil JL.

Dis Model Mech. 2013 Jan;6(1):84-94. doi: 10.1242/dmm.010207. Epub 2012 Jul 5.

PMID:: 22773758; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 227432818.

N- and O-linked glycosylation of total plasma glycoproteins in galactosemia.

Liu Y, Xia B, Gleason TJ, Castañeda U, He M, Berry GT, Fridovich-Keil JL.

Mol Genet Metab. 2012 Aug;106(4):442-54. doi: 10.1016/j.ymgme.2012.05.025. Epub 2012 Jun 12.

PMID:: 22743281; [PubMed - indexed for MEDLINE]

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Select item 227364629.

Mediators of a long-term movement abnormality in a Drosophila melanogaster model of classic galactosemia.

Ryan EL, DuBoff B, Feany MB, Fridovich-Keil JL.

Dis Model Mech. 2012 Nov;5(6):796-803. doi: 10.1242/dmm.009050. Epub 2012 Jun 26.

PMID:: 22736462; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2263213310.

Galactokinase deficiency induced cataracts in Indian infants: identification of 4 novel mutations in GALK gene.

Singh R, Ram J, Kaur G, Prasad R.

Curr Eye Res. 2012 Oct;37(10):949-54. doi: 10.3109/02713683.2012.688162. Epub 2012 May 25.

PMID:: 22632133; [PubMed - indexed for MEDLINE]

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Select item 2261335511.

Altered cofactor binding affects stability and activity of human UDP-galactose 4'-epimerase: implications for type III galactosemia.

McCorvie TJ, Liu Y, Frazer A, Gleason TJ, Fridovich-Keil JL, Timson DJ.

Biochim Biophys Acta. 2012 Oct;1822(10):1516-26. doi: 10.1016/j.bbadis.2012.05.007. Epub 2012 May 18.

PMID:: 22613355; [PubMed - indexed for MEDLINE]

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Select item 2248361512.

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]

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Select item 2245071413.

Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes.

Jumbo-Lucioni PP, Garber K, Kiel J, Baric I, Berry GT, Bosch A, Burlina A, Chiesa A, Pico ML, Estrada SC, Henderson H, Leslie N, Longo N, Morris AA, Ramirez-Farias C, Schweitzer-Krantz S, Silao CL, Vela-Amieva M, Waisbren S, Fridovich-Keil JL.

J Inherit Metab Dis. 2012 Nov;35(6):1037-49. doi: 10.1007/s10545-012-9477-y. Epub 2012 Mar 27. Erratum in: J Inherit Metab Dis. 2012 Nov;35(6):1157. Scheweitzer-Krantz, Susanne [corrected to Schweitzer-Krantz, Susanne].

PMID:: 22450714; [PubMed - indexed for MEDLINE]

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Select item 2244715214.

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; [PubMed - indexed for MEDLINE]

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Select item 2224555015.

Inherited factor V deficient neonate with galactosaemia.

Mansouritorghabeh H, Sharifi-Hoseini MR, Shahroudian M.

Clin Biochem. 2012 Mar;45(4-5):356-8. doi: 10.1016/j.clinbiochem.2011.12.024. Epub 2012 Jan 8. Review.

PMID:: 22245550; [PubMed - indexed for MEDLINE]

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Select item 2208753716.

Differential glycomics of epithelial membrane glycoproteins from urinary exovesicles reveals shifts toward complex-type N-glycosylation in classical galactosemia.

Staubach S, Schadewaldt P, Wendel U, Nohroudi K, Hanisch FG.

J Proteome Res. 2012 Feb 3;11(2):906-16. doi: 10.1021/pr200711w. Epub 2011 Dec 2.

PMID:: 22087537; [PubMed - indexed for MEDLINE]

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Select item 2201872317.

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

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Select item 2201716618.

Erythrocyte Galactose-1-phosphate measurement by GC-MS in the monitoring of classical galactosemia.

Cangemi G, Barco S, Barbagallo L, Di Rocco M, Paci S, Giovannini M, Biasucci G, Lia R, Melioli G.

Scand J Clin Lab Invest. 2012 Feb;72(1):29-33. doi: 10.3109/00365513.2011.622409. Epub 2011 Oct 21.

PMID:: 22017166; [PubMed - indexed for MEDLINE]

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Select item 2196048219.

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]

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Select item 2195189620.

Methionine/galactose ratio on newborn blood spots useful for reduction of false positives for homocystinuria and galactosemia by high-performance anion-exchange chromatography with pulsed amperometric detection.

Lee JY, Sim HJ, Kwon HJ, Lee YM, Yoon HR, Hong SP.

Clin Chim Acta. 2012 Jan 18;413(1-2):182-6. doi: 10.1016/j.cca.2011.09.020. Epub 2011 Sep 17.

PMID:: 21951896; [PubMed - indexed for MEDLINE]

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