Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation

Clin Genet. 2006 Mar;69(3):294-6. doi: 10.1111/j.1399-0004.2006.00579.x.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • DNA / genetics
  • Female
  • Genotype
  • Humans
  • Infant
  • Intellectual Disability / enzymology
  • Intellectual Disability / genetics
  • Mutation
  • Phenotype
  • Succinate-Semialdehyde Dehydrogenase / deficiency*
  • Succinate-Semialdehyde Dehydrogenase / genetics*

Substances

  • DNA
  • Succinate-Semialdehyde Dehydrogenase