Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome
Owen, Mallory J, Niemi, Anna-Kaisa, Dimmock, David P, Speziale, Mark, Nespeca, Mark, Chau, Kevin K, Van Der Kraan, Luca, Wright, Meredith S, Hansen, Christian, Veeraraghavan, Narayanan, Ding, Yan, Lenberg, Jerica, Chowdhury, Shimul, Hobbs, Charlotte A, Batalov, Sergey, Zhu, Zhanyang, Nahas, Shareef A, Gilmer, Sheldon, Knight, Gail, Lefebvre, Sebastien, Reynders, John, Defay, Thomas, Weir, Jacqueline, Thomson, Vicki S, Fraser, Louise, Lajoie, Bryan R, McPhail, Tim K, Mehtalia, Shyamal S, Kunard, Chris M, Hall, Kevin P, Kingsmore, Stephen F
Published in The New England journal of medicine (03.06.2021)
Published in The New England journal of medicine (03.06.2021)
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