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Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome.
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.
Affiliation
  • Owen MJ; Rady Children's Institute for Genomic Medicine, San Diego, CA mowen1@rchsd.org.
  • Niemi AK; Rady Children's Hospital, San Diego, CA.
  • Dimmock DP; Rady Children's Institute for Genomic Medicine, San Diego, CA.
  • Speziale M; Rady Children's Hospital, San Diego, CA.
  • Nespeca M; Rady Children's Hospital, San Diego, CA.
  • Chau KK; Rady Children's Institute for Genomic Medicine, San Diego, CA.
  • Van Der Kraan L; Rady Children's Institute for Genomic Medicine, San Diego, CA.
  • Wright MS; Rady Children's Institute for Genomic Medicine, San Diego, CA.
  • Hansen C; Rady Children's Institute for Genomic Medicine, San Diego, CA.
  • Veeraraghavan N; Rady Children's Institute for Genomic Medicine, San Diego, CA.
  • Ding Y; Rady Children's Institute for Genomic Medicine, San Diego, CA.
  • Lenberg J; Rady Children's Institute for Genomic Medicine, San Diego, CA.
  • Chowdhury S; Rady Children's Institute for Genomic Medicine, San Diego, CA.
  • Hobbs CA; Rady Children's Institute for Genomic Medicine, San Diego, CA.
  • Batalov S; Rady Children's Institute for Genomic Medicine, San Diego, CA.
  • Zhu Z; Rady Children's Institute for Genomic Medicine, San Diego, CA.
  • Nahas SA; Rady Children's Institute for Genomic Medicine, San Diego, CA.
  • Gilmer S; Rady Children's Hospital, San Diego, CA.
  • Knight G; Rady Children's Hospital, San Diego, CA.
  • Lefebvre S; Alexion Pharmaceuticals, Boston, MA.
  • Reynders J; Alexion Pharmaceuticals, Boston, MA.
  • Defay T; Alexion Pharmaceuticals, Boston, MA.
  • Weir J; Illumina, San Diego, CA.
  • Thomson VS; Illumina, San Diego, CA.
  • Fraser L; Illumina, San Diego, CA.
  • Lajoie BR; Illumina, San Diego, CA.
  • McPhail TK; Illumina, San Diego, CA.
  • Mehtalia SS; Illumina, San Diego, CA.
  • Kunard CM; Illumina, San Diego, CA.
  • Hall KP; Illumina, San Diego, CA.
  • Kingsmore SF; Rady Children's Institute for Genomic Medicine, San Diego, CA skingsmore@rchsd.org.
N Engl J Med ; 384(22): 2159-2161, 2021 06 03.
Article in En | MEDLINE | ID: mdl-34077649
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Full text: 1 Database: MEDLINE Main subject: Brain Diseases / High-Throughput Nucleotide Sequencing / Whole Genome Sequencing / Metabolism, Inborn Errors Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Infant / Male Language: En Year: 2021 Type: Article
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Database: MEDLINE Main subject: Brain Diseases / High-Throughput Nucleotide Sequencing / Whole Genome Sequencing / Metabolism, Inborn Errors Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Infant / Male Language: En Year: 2021 Type: Article