Very early pattern of movement disorders in sepiapterin reductase deficiency

Neurology. 2013 Dec 10;81(24):2141-2. doi: 10.1212/01.wnl.0000437299.51312.5f. Epub 2013 Nov 8.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Dystonia / complications*
  • Dystonia / diagnosis*
  • Early Diagnosis
  • Female
  • Humans
  • Infant
  • Metabolism, Inborn Errors / complications*
  • Metabolism, Inborn Errors / diagnosis*
  • Movement Disorders / complications*
  • Movement Disorders / diagnosis*
  • Psychomotor Disorders / complications*
  • Psychomotor Disorders / diagnosis*

Supplementary concepts

  • Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency