A heritable disorder of connective tissue. Hydroxylysine-deficient collagen disease

N Engl J Med. 1972 May 11;286(19):1013-20. doi: 10.1056/NEJM197205112861901.
No abstract available

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Amino Acid Metabolism, Inborn Errors / metabolism
  • Amino Acids / analysis
  • Bone and Bones / analysis
  • Cartilage / analysis
  • Child
  • Collagen / analysis
  • Collagen / metabolism
  • Collagen Diseases / genetics*
  • Collagen Diseases / metabolism
  • Fascia / analysis
  • Female
  • Humans
  • Hydroxylation
  • Hydroxylysine / analysis
  • Hydroxylysine / urine
  • Hydroxyproline / urine
  • Lysine*
  • Microscopy, Electron
  • Pedigree
  • Scoliosis / genetics
  • Skin / analysis
  • Skin / pathology
  • Skin Diseases / genetics
  • Solubility
  • X-Ray Diffraction

Substances

  • Amino Acids
  • Hydroxylysine
  • Collagen
  • Lysine
  • Hydroxyproline