Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome
Author:
Affiliation:
1. Rady Children’s Institute for Genomic Medicine, San Diego, CA
2. Rady Children’s Hospital, San Diego, CA
Funder
J. Willard and Alice S. Marriott Foundation
National Center for Advancing Translational Sciences
Alexion
Ernest and Evelyn Rady
Publisher
Massachusetts Medical Society
Subject
General Medicine
Link
http://www.nejm.org/doi/pdf/10.1056/NEJMc2100365
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