Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome
Mallory Owen, Anna‐Kaisa Niemi, David Dimmock, Mark Speziale, Mark Nespeca, Kevin Chau, Luca Van Der Kraan, Meredith S. Wright, Christian Holm Hansen, Narayanan Veeraraghavan, Yan Ding, Jerica Lenberg, Shimul Chowdhury, Charlotte A. Hobbs, Serge Batalov, Zhanyang Zhu, Shareef Nahas, Sheldon Gilmer, G. R. Knight, Sébastien Lefebvre, John Reynders, Thomas Defay, Jacqueline Weir, Vicki S. Thomson, Louise Fraser, Bryan R. Lajoie, Tim K McPhail, Shyamal Mehtalia, Chris M. Kunard, Kevin P. Hall, Stephen F. Kingsmore
Abstract
Speedy Genetic Diagnosis Infantile encephalopathy is associated with approximately 1500 genetic diseases. Without prompt treatment, permanent neurologic injury or death may occur. Here, the genome ...
Topics & Concepts
ThiamineEncephalopathyMedicineBioinformaticsIntensive care medicinePediatricsBiologyInternal medicineMetabolism and Genetic DisordersBiochemical and Molecular ResearchAmino Acid Enzymes and Metabolism