Article
Congenital disorders of glycosylation: The Saudi experience.
American journal of medical genetics. Part A - 1 Oct 2017
Alsubhi Sarah, Alhashem Amal, Faqeih Eissa, Alfadhel Majid, Alfaifi Abdullah, Altuwaijri Waleed, Alsahli Saud, Aldhalaan Hesham, Alkuraya Fowzan S, Hundallah Khalid, Mahmoud Adel, Alasmari Ali, Mutairi Fuad Al, Abduraouf Hanem, AlRasheed Layan, Alshahwan Saad, Tabarki Brahim
Abstract excerpt
We retrospectively reviewed Saudi patients who had a congenital disorder of glycosylation (CDG). Twenty-seven Saudi patients (14 males, 13 females) from 13 unrelated families were identified. Based on molecular studies, the 27 CDG patients were classified into different subtypes: ALG9-CDG (8 patients, 29.5%), ALG3-CDG (7 patients, 26%), COG6-CDG (7 patients, 26%), MGAT2-CDG (3 patients, 11%), SLC35A2-CDG (1...
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