[Hypotonia and convulsive encephalopathy with lipid myopathy and palmitoyl-carnitine transferase deficiency. A new entity?]

Pediatrie. 1979 Jul-Aug;34(5):503-18.
[Article in French]
No abstract available

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Acyltransferases / deficiency*
  • Brain Diseases / etiology*
  • Carnitine O-Palmitoyltransferase / deficiency*
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Lipid Metabolism
  • Male
  • Muscle Hypotonia / genetics
  • Muscular Diseases / genetics*
  • Muscular Diseases / metabolism
  • Seizures / etiology

Substances

  • Acyltransferases
  • Carnitine O-Palmitoyltransferase