Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle

J Neurol. 1996 Jan;243(1):102-3. doi: 10.1007/BF00878541.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Alleles
  • Child
  • Humans
  • Male
  • Muscle, Skeletal / enzymology*
  • Mutation
  • UTP-Hexose-1-Phosphate Uridylyltransferase / deficiency*
  • UTP-Hexose-1-Phosphate Uridylyltransferase / genetics

Substances

  • UTP-Hexose-1-Phosphate Uridylyltransferase