Predominant and novel de novo variants in 29 individuals with
ALG13
deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions Bobby G. Ng , Erik A. Eklund , Sergey A. Shiryaev , Yin Y. Dong , Mary‐Alice Abbott , Carla Asteggiano , Michael J. Bamshad , Eileen Barr , Jonathan A. Bernstein , Shabeed Chelakkadan , John Christodoulou , Wendy K. Chung , Michael A. Ciliberto , Janice Cousin , Fiona Gardiner , Suman Ghosh , William D. Graf , Stephanie Grunewald , Katherine Hammond , Natalie S. Hauser , George E. Hoganson , Kimberly M. Houck , Jennefer N. Kohler , Eva Morava , Austin A. Larson , Pengfei Liu , Sujana Madathil , Colleen McCormack , Naomi J.L. Meeks , Rebecca Miller , Kristin G. Monaghan , Deborah A. Nickerson , Timothy Blake Palculict , Gabriela Magali Papazoglu , Beth A. Pletcher , Ingrid E. Scheffer , Andrea Beatriz Schenone , Rhonda E. Schnur , Yue Si , Leah J. Rowe , Alvaro H. Serrano Russi , Rossana Sanchez Russo , Farouq Thabet , Allysa Tuite , María Mercedes Villanueva , Raymond Y. Wang , Richard I. Webster , Dorcas Wilson , Alice Zalan , Lynne A. Wolfe , Jill A. Rosenfeld , Lindsay Rhodes , Hudson H. Freeze Journal of Inherited Metabolic Disease(2020)
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