Geleophysic dwarfism--a "focal" mucopolysaccharidosis?

Lancet. 1971 Jul 10;2(7715):97-8. doi: 10.1016/s0140-6736(71)92073-3.
No abstract available

MeSH terms

  • Biopsy
  • Carbohydrate Metabolism, Inborn Errors*
  • Child
  • Child, Preschool
  • Chromatography, Thin Layer
  • Dwarfism*
  • Female
  • Genes, Recessive
  • Glycosaminoglycans / metabolism*
  • Glycosaminoglycans / urine
  • Hepatomegaly / physiopathology
  • Humans
  • Liver / metabolism
  • Liver / pathology
  • Male
  • Microscopy, Electron
  • Phenotype
  • Respiratory Tract Infections / metabolism

Substances

  • Glycosaminoglycans