« Previous
Next »
The Journal of Pediatrics
Volume 154, Issue 3
, Pages 431-437
, March 2009
Birth Prevalence of Homocystinuria in Central Europe: Frequency and Pathogenicity of Mutation c.1105C>T (p.R369C) in the Cystathionine Beta-Synthase Gene
References
- . Disorders of transsulfuration. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Vogelstein B editor. The Metabolic and Molecular Bases of Inherited Disease. 8 ed.. New York: McGraw-Hill; 2001;p. 2007–2056
- . Cystathionine-beta-synthase and its deficiency. In: Carmel R, Jakobsen DW editor. Homocysteine in Health and Disease. Cambridge: Cambridge University Press; 2001;p. 223–243
- . Familial thrombophilia associated with homozygosity for the cystathionine beta-synthase 833T—>C mutation. Arterioscler Thromb Vasc Biol. 2000;20:1392–1395
- The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment. Hum Mutat. 2002;20:117–126
- . Isolated thrombosis due to the cystathionine beta-synthase mutation c.833T>C (1278T). J Inherit Metab Dis. 2003;26:509–511
- High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations. Hum Mutat. 2002;19:641–655
- . Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med. 2003;348:2304–2312
- . Newborn screening for homocystinuria: Irish and world experience. Eur J Pediatr. 1998;157(Suppl 2):S84–S87
- . Prevalence of congenital homocystinuria in Denmark. N Engl J Med. 1999;340:1513
- . Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles. Hum Mutat. 2001;18:548–549
- . High prevalence of the I278T mutation of the human cystathionine beta-synthase detected by a novel screening application. Thromb Haemost. 2001;85:986–988
- . Birth prevalence of homocystinuria. J Pediatr. 2004;144:830–832
- The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment. Am J Hum Genet. 1999;65:59–67
- Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria. Hum Mol Genet. 1997;6:2213–2221
- . Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency. Hum Mutat. 1992;1:113–123
- . Protein measurement with the Folin phenol reagent. J Biol Chem. 1951;193:265–275
- . Cystathionine beta-synthase (human). Methods Enzymol. 1987;143:388–394
- . Structural insights into mutations of cystathionine beta-synthase. Biochim Biophys Acta. 2003;1647:206–213
- . Structural insights into pathogenic mutations in heme-dependent cystathionine-beta-synthase. J Inorg Biochem. 2006;100:1988–1995
- . Correcting temperature-sensitive protein folding defects. J Clin Invest. 1997;99:1432–1444
- . How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression. Hum Mutat. 2003;21:357–369
- . Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency. Hum Mutat. 2006;27:796–802
- . Reduction of false negative results in screening of newborns for homocystinuria. N Engl J Med. 1999;341:1572–1576
- Screening for serum total homocysteine in newborn children. Clin Chem. 2004;50:1769–1784
- . Blood spot homocysteine: a feasibility and stability study. Clin Chem. 2005;51:257–258
- . Haplotyping of wild-type and I278T alleles of the human cystathionine beta-synthase gene based on a cluster of novel SNPs in IVS12. Hum Mutat. 2001;17:350–351
Supported by the Wellcome Trust International Senior Research Fellowship in Biomedical Science in Central Europe (reg. No 070255/Z/03/Z). Institutional support was provided by the Research Project of the Ministry of Education of the Czech Republic (reg. No MSM0021620806). The authors declare no conflict of interests.
PII: S0022-3476(08)00779-8
doi: 10.1016/j.jpeds.2008.09.015
© 2009 Mosby, Inc. All rights reserved.
« Previous
Next »
The Journal of Pediatrics
Volume 154, Issue 3
, Pages 431-437
, March 2009
