A molecular lesion in a Japanese patient with severe phenotype of 3-methylglutaconic aciduria type I

Pediatr Int. 2005 Dec;47(6):684-6. doi: 10.1111/j.1442-200x.2005.02130.x.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Atrophy / genetics
  • Child, Preschool
  • Enoyl-CoA Hydratase / genetics*
  • Glutarates / urine*
  • Humans
  • Male
  • Metabolism, Inborn Errors / genetics*
  • Metabolism, Inborn Errors / pathology
  • Pedigree
  • Phenotype
  • RNA-Binding Proteins / genetics*
  • Telencephalon / pathology*

Substances

  • Glutarates
  • RNA-Binding Proteins
  • 3-methylglutaconic acid
  • AUH protein, human
  • Enoyl-CoA Hydratase