-
Letter Case Reports
Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome.
- Mallory J Owen, Anna-Kaisa Niemi, David P Dimmock, Mark Speziale, Mark Nespeca, Kevin K Chau, Luca Van Der Kraan, Meredith S Wright, Christian Hansen, Narayanan Veeraraghavan, Yan Ding, Jerica Lenberg, Shimul Chowdhury, Charlotte A Hobbs, Sergey Batalov, Zhanyang Zhu, Shareef A Nahas, Sheldon Gilmer, Gail Knight, Sebastien Lefebvre, John Reynders, Thomas Defay, Jacqueline Weir, Vicki S Thomson, Louise Fraser, Bryan R Lajoie, Tim K McPhail, Shyamal S Mehtalia, Chris M Kunard, Kevin P Hall, and Stephen F Kingsmore.
- Rady Children's Institute for Genomic Medicine, San Diego, CA mowen1@rchsd.org.
- N. Engl. J. Med. 2021 Jun 3; 384 (22): 215921612159-2161.
no abstract available
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