Browsing Biomedical Sciences by Author "Thöny, Beat"
Now showing items 1-1 of 1
-
In silico and in vivo models for Qatari-Specific classical homocystinuria as basis for development of novel therapies.
Ismail, Hesham M; Krishnamoorthy, Navaneethakrishnan; Al-Dewik, Nader; Zayed, Hatem; Mohamed, Nura A; Giacomo, Valeria Di; Gupta, Sapna; Häberle, Johannes; Thöny, Beat; Blom, Henk J; Kruger, Waren D; Ben-Omran, Tawfeg; Nasrallah, Gheyath K... more authors ... less authors ( Wiley , 2018 , Article)Homocystinuria is a rare inborn error of methionine metabolism caused by cystathionine β-synthase (CBS) deficiency. The prevalence of homocystinuria in Qatar is 1:1,800 births, mainly due to a founder Qatari missense ...