Browsing by Author "Blom, Henk J"
Now showing items 1-2 of 2
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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 ... -
Natural History, with Clinical, Biochemical and Molecular Characterization, of Classical Homocystinuria in the Qatari Population
Al-Dewik, Nader; Ali, Alaa; Mahmoud, Yassmin; Shahbeck, Noora; Ali, Rehab; Mahmoud, Laila; Al-Mureikhi, Mariam; Al-Mesaifri, Fatma; Musa, Sara; El-Akouri, Karen; AlMulla, Mariam; Al Saadi, Reem; Nasrallah, Gheyath; Samara, Muthanna; Abdoh, Ghassan; Al Rifai, Hilal; Häberle, Johannes; Thöny, Beat; Kruger, Warren; Blom, Henk J; Ben-Omran, Tawfeg... more authors ... less authors ( Wiley , 2019 , Article)Classical homocystinuria (HCU) is the most common inborn error of metabolism in Qatar, with an incidence of 1:1800, and is caused by the Qatari founder p.R336C mutation in the CBS gene. This study describes the natural ...