Literature DB >> 10328723

Prevalence of congenital homocystinuria in Denmark.

M Gaustadnes, J Ingerslev, N Rütiger.   

Abstract

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Year:  1999        PMID： 10328723     DOI： 10.1056/NEJM199905133401915

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  18 in total

1.  Conformational properties of nine purified cystathionine β-synthase mutants.

Authors:  Aleš Hnízda; Tomas Majtan; Lu Liu; Angel L Pey; John F Carpenter; Milan Kodíček; Viktor Kožich; Jan P Kraus
Journal:  Biochemistry       Date:  2012-05-30       Impact factor: 3.162

2.  Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.

Authors:  Sook-Jin Lee; Dong Hwan Lee; Han-Wook Yoo; Soo Kyung Koo; Eun-Sook Park; Joo-Won Park; Hun Gil Lim; Sung-Chul Jung
Journal:  J Hum Genet       Date:  2005-10-05       Impact factor: 3.172

Review 3.  The prevalence and clinical significance of antiphospholipid antibodies in rheumatoid arthritis.

Authors:  Ewa Olech; Joan T Merrill
Journal:  Curr Rheumatol Rep       Date:  2006-04       Impact factor: 4.592

4.  Characterisation of a human liver cystathionine beta synthase mRNA sequence corresponding to the c.[833T>C;844_845ins68] mutation in CBS gene.

Authors:  Jean-François Chassé; Robert Barouki
Journal:  Mol Cell Biochem       Date:  2009-07-11       Impact factor: 3.396

5.  Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.

Authors:  Viktor Kozich; Jitka Sokolová; Veronika Klatovská; Jakub Krijt; Miroslav Janosík; Karel Jelínek; Jan P Kraus
Journal:  Hum Mutat       Date:  2010-07       Impact factor: 4.878

Review 6.  A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.

Authors:  Flemming Skovby; Mette Gaustadnes; S Harvey Mudd
Journal:  Mol Genet Metab       Date:  2010-01       Impact factor: 4.797

7.  Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a family.

Authors:  Sally P Stabler; Mark Korson; Reena Jethva; Robert H Allen; Jan P Kraus; Elaine B Spector; Conrad Wagner; S Harvey Mudd
Journal:  JIMD Rep       Date:  2013-06-04

Review 8.  Genetics of atherothrombotic and lacunar stroke.

Authors:  Stéphanie Debette; Sudha Seshadri
Journal:  Circ Cardiovasc Genet       Date:  2009-04

9.  Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment.

Authors:  Kenneth N Maclean; Jakub Sikora; Viktor Kožich; Hua Jiang; Lori S Greiner; Eva Kraus; Jakub Krijt; Linda S Crnic; Robert H Allen; Sally P Stabler; Milan Elleder; Jan P Kraus
Journal:  Mol Genet Metab       Date:  2010-06-22       Impact factor: 4.797

10.  Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones.

Authors:  Jana Kopecká; Jakub Krijt; Kateřina Raková; Viktor Kožich
Journal:  J Inherit Metab Dis       Date:  2010-05-20       Impact factor: 4.982
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