Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions - Ng, Bobby G.; Eklund, Erik A.; Shiryaev, Sergey A.; Dong, Yin Y.; Abbott, Mary‐Alice; Asteggiano, Carla; Bamshad, Michael J.; Barr, Eileen; Bernstein, Jonathan A.; Chelakkadan, Shabeed; Christodoulou, John; Chung, Wendy K.; et al. (Journal of inherited metabolic disease, 2020)
Keywords: Adrenocorticotropic hormone; Asparagine; Basic Medicine; Biochemical analysis; Biomarkers; Child, Preschool; congenital disorders of glycosylation; Congenital Disorders of Glycosylation - diagnosis; Congenital Disorders of Glycosylation - genetics; Diet, Ketogenic; Encephalopathy; Epilepsy; Female; Glycosylation; High fat diet; Homology; Humans; Infant; Ketogenesis; Low carbohydrate diet; Male; Medical and Health Sciences; Medical Genetics and Genomics (including Gene Therapy); Medicin och hälsovetenskap; Medicinsk genetik och genomik (Här ingår: Genterapi); Medicinska och farmaceutiska grundvetenskaper; Mutation; N-Acetylglucosaminyltransferases - chemistry; N-Acetylglucosaminyltransferases - deficiency; N-Acetylglucosaminyltransferases - genetics; Neurosciences; Neurovetenskaper; N‐linked glycosylation; Oligosaccharides; Prednisolone; Spasms, Infantile - diagnosis; Spasms, Infantile - genetics; Transferrin; Transferrin - metabolism; Uridine; whole exome sequencing; epilepsy; N-linked glycosylation; whole exome sequencing; congenital disorders of glycosylation