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Xu, C. Homocystinuria. Encyclopedia. Available online: https://encyclopedia.pub/entry/4119 (accessed on 26 September 2026).
Xu C. Homocystinuria. Encyclopedia. Available at: https://encyclopedia.pub/entry/4119. Accessed September 26, 2026.
Xu, Camila. "Homocystinuria" Encyclopedia, https://encyclopedia.pub/entry/4119 (accessed September 26, 2026).
Xu, C. (2020, December 23). Homocystinuria. In Encyclopedia. https://encyclopedia.pub/entry/4119
Xu, Camila. "Homocystinuria." Encyclopedia. Web. 23 December, 2020.
Homocystinuria
Edit

Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly.

genetic conditions

References

  1. Adam S, Almeida MF, Carbasius Weber E, Champion H, Chan H, Daly A, Dixon M,Dokoupil K, Egli D, Evans S, Eyskens F, Faria A, Ferguson C, Hallam P,Heddrich-Ellerbrok M, Jacobs J, Jankowski C, Lachmann R, Lilje R, Link R, LowryS, Luyten K, MacDonald A, Maritz C, Martins E, Meyer U, Müller E, Murphy E,Robertson LV, Rocha JC, Saruggia I, Schick P, Stafford J, Stoelen L, Terry A,Thom R, van den Hurk T, van Rijn M, van Teefelen-Heithoff A, Webster D, White FJ,Wildgoose J, Zweers H. Dietary practices in pyridoxine non-responsivehomocystinuria: a European survey. Mol Genet Metab. 2013 Dec;110(4):454-9. doi:10.1016/j.ymgme.2013.10.003.
  2. Carmel R, Green R, Rosenblatt DS, Watkins D. Update on cobalamin, folate, and homocysteine. Hematology Am Soc Hematol Educ Program. 2003:62-81. Review.
  3. 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.
  4. Elsaid MF, Bener A, Lindner M, Alzyoud M, Shahbek N, Abdelrahman MO, Abdoh G, Bessisso MS, Zschocke J, Hoffmann GF. Are heterocygotes for classicalhomocystinuria at risk of vitamin B12 and folic acid deficiency? Mol Genet Metab.2007 Sep-Oct;92(1-2):100-3.
  5. 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 withhomocystinuria. Hum Mutat. 2004 Feb;23(2):206.
  6. Sacharow SJ, Picker JD, Levy HL. Homocystinuria Caused by CystathionineBeta-Synthase Deficiency. 2004 Jan 15 [updated 2017 May 18]. In: Adam MP,Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors.GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle;1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1524/
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Update Date: 23 Dec 2020
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