Thiamine Deficiency in Childhood with Attention to Genetic Causes: Survival and Outcome Predictors

Juan Dario Ortigoza-Escobar, Majid Alfadhel, Marta Molero-Luis, Niklas Darin, Ronen Spiegel, Irenaeus F. de Coo, Mike Gerards, Robert W. Taylor, Rafael Artuch, Marwan Nashabat, Pilar Rodriguez-Pombo, Brahim Tabarki, Belen Perez-Duenas*, Thiamine Deficiency Study Grp

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

31 Citations (Web of Science)
Original languageEnglish
Pages (from-to)317-330
Number of pages14
JournalAnnals of Neurology
Volume82
Issue number3
DOIs
Publication statusPublished - Sep 2017

Keywords

  • BASAL GANGLIA DISEASE
  • EXOME SEQUENCING REVEALS
  • WERNICKE ENCEPHALOPATHY
  • LEIGH-SYNDROME
  • TRANSPORTER-2 DEFICIENCY
  • PYROPHOSPHOKINASE DEFICIENCY
  • MITOCHONDRIAL DISEASE
  • CELL TRANSPLANTATION
  • AUTISTIC-CHILD
  • BIOTIN

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