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References

These sources were used to develop the Genetics Home Reference condition summary on homocystinuria.

Carmel R, Green R, Rosenblatt DS, Watkins D. Update on cobalamin, folate, and homocysteine. Hematology Am Soc Hematol Educ Program. 2003:62-81. Review. PubMed citation
El-Said MF, Badii R, Bessisso MS, Shahbek N, El-Ali MG, El-Marikhie M, El-Zyoid M, Salem MS, Bener A, Hoffmann GF, Zschocke J. A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population. Hum Mutat. 2006 Jul;27(7):719. PubMed citation
Elsaid MF, Bener A, Lindner M, Alzyoud M, Shahbek N, Abdelrahman MO, Abdoh G, Bessisso MS, Zschocke J, Hoffmann GF. Are heterocygotes for classical homocystinuria at risk of vitamin B12 and folic acid deficiency? Mol Genet Metab. 2007 Sep-Oct;92(1-2):100-3. Epub 2007 Aug 7. PubMed citation
Gene Review: Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency
Moat SJ, Bao L, Fowler B, Bonham JR, Walter JH, Kraus JP. The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria. Hum Mutat. 2004 Feb;23(2):206. PubMed citation
Yap S. Classical homocystinuria: vascular risk and its prevention. J Inherit Metab Dis. 2003;26(2-3):259-65. Review. PubMed citation

Reviewed: July 2011

Published: May 21, 2012