Article
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
Journal of inherited metabolic disease - 1 Nov 2020
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, Ciliberto Michael A, Cousin Janice, Gardiner Fiona, Ghosh Suman, Graf William D, Grunewald Stephanie, Hammond Katherine, Hauser Natalie S, Hoganson George E, Houck Kimberly M, Kohler Jennefer N, Morava Eva, Larson Austin A, Liu Pengfei, Madathil Sujana, McCormack Colleen, Meeks Naomi J L, Miller Rebecca, Monaghan Kristin G, Nickerson Deborah A, Palculict Timothy Blake, Papazoglu Gabriela Magali, Pletcher Beth A, Scheffer Ingrid E, Schenone Andrea Beatriz, Schnur Rhonda E, Si Yue, Rowe Leah J, Serrano Russi Alvaro H, Russo Rossana Sanchez, Thabet Farouq, Tuite Allysa, Villanueva María Mercedes, Wang Raymond Y, Webster Richard I, Wilson Dorcas, Zalan Alice, Wolfe Lynne A, Rosenfeld Jill A, Rhodes Lindsay, Freeze Hudson H
Abstract excerpt
Asparagine-linked glycosylation 13 homolog (ALG13) encodes a nonredundant, highly conserved, X-linked uridine diphosphate (UDP)-N-acetylglucosaminyltransferase required for the synthesis of lipid linked oligosaccharide precursor and proper N-linked glycosylation. De novo variants in ALG13 underlie a form of early infantile epileptic encephalopathy known as EIEE36, but given its essential role in glycosylation, it...
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