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Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome.
- Source :
-
The New England journal of medicine [N Engl J Med] 2021 Jun 03; Vol. 384 (22), pp. 2159-2161. - Publication Year :
- 2021
- Subjects :
- Brain diagnostic imaging
Brain Diseases congenital
Humans
Infant
Male
Metabolism, Inborn Errors complications
Metabolism, Inborn Errors diagnosis
Precision Medicine
Time Factors
Tomography, X-Ray Computed
Brain Diseases genetics
High-Throughput Nucleotide Sequencing
Metabolism, Inborn Errors genetics
Whole Genome Sequencing methods
Subjects
Details
- Language :
- English
- ISSN :
- 1533-4406
- Volume :
- 384
- Issue :
- 22
- Database :
- MEDLINE
- Journal :
- The New England journal of medicine
- Publication Type :
- Report
- Accession number :
- 34077649
- Full Text :
- https://doi.org/10.1056/NEJMc2100365