A case of D-bifunctional protein deficiency: clinical, biochemical and molecular investigations

Pediatr Int. 2011 Aug;53(4):583-7. doi: 10.1111/j.1442-200X.2010.03255.x.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • 17-Hydroxysteroid Dehydrogenases / deficiency*
  • 17-Hydroxysteroid Dehydrogenases / genetics
  • Fatal Outcome
  • Female
  • Humans
  • Hydro-Lyases / deficiency*
  • Hydro-Lyases / genetics
  • Infant, Newborn
  • Peroxisomal Disorders / diagnosis*
  • Peroxisomal Disorders / genetics
  • Peroxisomal Disorders / metabolism
  • Peroxisomal Multifunctional Protein-2

Substances

  • 17-Hydroxysteroid Dehydrogenases
  • Hydro-Lyases
  • Peroxisomal Multifunctional Protein-2
  • HSD17B4 protein, human