Congenital disorders of glycosylation: The Saudi experience - 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; et al. (American journal of medical genetics. Part A, 2017)
Keywords: Adaptor Proteins, Vesicular Transport - genetics; Adolescent; ALG9; Biomarkers, Tumor - genetics; CDG; Child; Child, Preschool; Congenital diseases; Congenital disorder(s) of glycosylation; Congenital Disorders of Glycosylation - epidemiology; Congenital Disorders of Glycosylation - genetics; Female; Glycosylation; Homozygote; Humans; Infant; Male; Mannosyltransferases - genetics; Membrane Proteins - genetics; Mixed Function Oxygenases - genetics; Monosaccharide Transport Proteins - genetics; Mutation; N-Acetylglucosaminyltransferases - genetics; Patients; Phenotype; Retrospective Studies; Saudi Arabia - epidemiology; severe phenotype; skeletal dysplasia; Congenital disorder(s) of glycosylation; ALG9; severe phenotype; skeletal dysplasia; CDG