Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome
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.
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| Veröffentlicht in: | The New England journal of medicine 2021-06, Vol.384 (22), p.2159-2161 |
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| 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 Kingsmore, Stephen F |
| description | 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. |
| doi_str_mv | 10.1056/NEJMc2100365 |
| format | Article |
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All rights reserved.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c408t-5bb7f10f919e20ad67920d4e04b4c67823975317ea9eeafe4c09ef045e179d643</citedby><cites>FETCH-LOGICAL-c408t-5bb7f10f919e20ad67920d4e04b4c67823975317ea9eeafe4c09ef045e179d643</cites><orcidid>0000-0001-7180-2527</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.nejm.org/doi/pdf/10.1056/NEJMc2100365$$EPDF$$P50$$Gmms$$H</linktopdf><linktohtml>$$Uhttps://www.nejm.org/doi/full/10.1056/NEJMc2100365$$EHTML$$P50$$Gmms$$H</linktohtml><link.rule.ids>230,314,776,780,881,2746,2747,26080,27901,27902,52357,54039</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/34077649$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Owen, Mallory J</creatorcontrib><creatorcontrib>Niemi, Anna-Kaisa</creatorcontrib><creatorcontrib>Dimmock, David P</creatorcontrib><creatorcontrib>Speziale, Mark</creatorcontrib><creatorcontrib>Nespeca, Mark</creatorcontrib><creatorcontrib>Chau, Kevin K</creatorcontrib><creatorcontrib>Van Der Kraan, Luca</creatorcontrib><creatorcontrib>Wright, Meredith S</creatorcontrib><creatorcontrib>Hansen, Christian</creatorcontrib><creatorcontrib>Veeraraghavan, Narayanan</creatorcontrib><creatorcontrib>Ding, Yan</creatorcontrib><creatorcontrib>Lenberg, Jerica</creatorcontrib><creatorcontrib>Chowdhury, Shimul</creatorcontrib><creatorcontrib>Hobbs, Charlotte A</creatorcontrib><creatorcontrib>Batalov, Sergey</creatorcontrib><creatorcontrib>Zhu, Zhanyang</creatorcontrib><creatorcontrib>Nahas, Shareef A</creatorcontrib><creatorcontrib>Gilmer, Sheldon</creatorcontrib><creatorcontrib>Knight, Gail</creatorcontrib><creatorcontrib>Lefebvre, Sebastien</creatorcontrib><creatorcontrib>Reynders, John</creatorcontrib><creatorcontrib>Defay, Thomas</creatorcontrib><creatorcontrib>Weir, Jacqueline</creatorcontrib><creatorcontrib>Thomson, Vicki S</creatorcontrib><creatorcontrib>Fraser, Louise</creatorcontrib><creatorcontrib>Lajoie, Bryan R</creatorcontrib><creatorcontrib>McPhail, Tim K</creatorcontrib><creatorcontrib>Mehtalia, Shyamal S</creatorcontrib><creatorcontrib>Kunard, Chris M</creatorcontrib><creatorcontrib>Hall, Kevin P</creatorcontrib><creatorcontrib>Kingsmore, Stephen F</creatorcontrib><title>Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome</title><title>The New England journal of medicine</title><addtitle>N Engl J Med</addtitle><description>Infantile encephalopathy is associated with approximately 1500 genetic diseases. Without prompt treatment, permanent neurologic injury or death may occur. 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| identifier | ISSN: 0028-4793 |
| ispartof | The New England journal of medicine, 2021-06, Vol.384 (22), p.2159-2161 |
| issn | 0028-4793 1533-4406 |
| language | eng |
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| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; New England Journal of Medicine Current |
| subjects | Babies Brain - diagnostic imaging Brain Diseases - congenital Brain Diseases - genetics Convulsions & seizures Diagnosis Encephalopathy Genetic disorders Genomes High-Throughput Nucleotide Sequencing Humans Infant Male Metabolism Metabolism, Inborn Errors - complications Metabolism, Inborn Errors - diagnosis Metabolism, Inborn Errors - genetics Precision Medicine Thiamine Time Factors Tomography, X-Ray Computed Vitamin B Whole Genome Sequencing - methods |
| title | Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome |
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