Serial Magnetic Resonance Imaging Changes in a Patient With Late-Onset Cobalamin C Disease With a Misdiagnosis of Metachromatic Leukodystrophy

JAMA Neurol. 2018 Mar 1;75(3):374-375. doi: 10.1001/jamaneurol.2017.4527.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diagnostic imaging*
  • Carrier Proteins / genetics
  • Diagnostic Errors
  • Humans
  • Image Processing, Computer-Assisted
  • Leukodystrophy, Metachromatic / diagnostic imaging*
  • Leukodystrophy, Metachromatic / genetics
  • Magnetic Resonance Imaging*
  • Male
  • Middle Aged
  • Oxidoreductases

Substances

  • Carrier Proteins
  • MMACHC protein, human
  • Oxidoreductases

Supplementary concepts

  • Methylmalonic Aciduria and Homocystinuria, CblF Type