Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features

AJNR Am J Neuroradiol. 2003 Mar;24(3):398-400.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Brain / abnormalities
  • Brain / pathology
  • Brain Diseases, Metabolic, Inborn / diagnosis*
  • Brain Diseases, Metabolic, Inborn / genetics
  • Chromosome Deletion
  • Chromosomes, Human, Pair 6
  • Diagnosis, Differential
  • Echoencephalography*
  • Exons
  • Fatal Outcome
  • Female
  • Frameshift Mutation
  • Humans
  • Infant
  • Infant, Newborn
  • Magnetic Resonance Imaging*
  • Microcephaly / diagnosis*
  • Microcephaly / genetics
  • Microcephaly / pathology
  • N-Acetylneuraminic Acid / urine
  • Sialic Acid Storage Disease / diagnosis*
  • Sialic Acid Storage Disease / genetics
  • Sialic Acid Storage Disease / pathology

Substances

  • N-Acetylneuraminic Acid