A genetic defect in muscle phosphofructokinase deficiency, a typical clinical entity presenting myogenic hyperuricemia

Adv Exp Med Biol. 1991:309B:141-4. doi: 10.1007/978-1-4615-7703-4_32.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • DNA Mutational Analysis
  • Glycogen Storage Disease / enzymology
  • Glycogen Storage Disease / genetics
  • Humans
  • Male
  • Molecular Sequence Data
  • Muscles / enzymology*
  • Muscular Diseases / genetics*
  • Muscular Diseases / metabolism
  • Phosphofructokinase-1 / chemistry
  • Phosphofructokinase-1 / deficiency*
  • Phosphofructokinase-1 / genetics*
  • Protein Conformation
  • RNA Splicing
  • Uric Acid / blood*

Substances

  • Uric Acid
  • Phosphofructokinase-1