Novel mutations underlying argininosuccinic aciduria in Saudi Arabia

por Imtiaz, Faiqa, Al-Sayed, Moeen, Trabzuni, Danyah, Al-Mubarak, Bashair R, Alsmadi, Osama, Rashed, Mohamed S, Meyer, Brian F
Publicado 2010

The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients

por Al-Hassnan, Zuhair N., Khalifa, Ola A., Bubshait, Dalal K., Tulbah, Sahar, Alkorashy, Maarab, Alzaidan, Hamad, Alowain, Mohammed, Rahbeeni, Zuhair, Al-Sayed, Moeen
Publicado 2018

Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature

por AlQudairy, Hanan, AlDhalaan, Hesham, AlRuways, Sarah, AlMutairi, Nouf, AlNakiyah, Maha, AlGhofaili, Reema, AlBakheet, Albandary, Alomrani, Adeeb, Alharbi, Omar A., Tous, Ehab, AlSayed, Moeen, AlZaidan, Hamad, AlRasheed, Maha M., AlOdaib, Ali, Kaya, Namik
Publicado 2023