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; Stephen F. Kingsmore

Journal ArticleOPEN ACCESS

Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

Owen M
Niemi A
Dimmock D
et al.

New England Journal of Medicine (2021) 384(22) 2159-2161

DOI: 10.1056/nejmc2100365

48Citations

57Readers

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 ...

Cite

CITATION STYLE

APA

Owen, M. J., Niemi, A.-K., Dimmock, D. P., Speziale, M., Nespeca, M., Chau, K. K., … Kingsmore, S. F. (2021). Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome. New England Journal of Medicine, 384(22), 2159–2161. https://doi.org/10.1056/nejmc2100365

Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

Abstract

Cite

Register to see more suggestions