Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome
Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome
About this item
Full title
Author / Creator
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 and Kingsmore, Stephen F
Publisher
United States: Massachusetts Medical Society
Journal title
Language
English
Formats
Publication information
Publisher
United States: Massachusetts Medical Society
Subjects
More information
Scope and Contents
Contents
Infantile encephalopathy is associated with approximately 1500 genetic diseases. Without prompt treatment, permanent neurologic injury or death may occur. Here, the genome of a patient with the condition was sequenced and a diagnosis made within 13 hours, leading to informed treatment.
Alternative Titles
Full title
Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9844116
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9844116
Other Identifiers
ISSN
0028-4793
E-ISSN
1533-4406
DOI
10.1056/NEJMc2100365
