Elastic-fiber pathologies: primary defects in assembly-and secondary disorders in transport and delivery

Am J Hum Genet. 2000 Jul;67(1):4-7. doi: 10.1086/302987. Epub 2000 Jun 6.
No abstract available

Publication types

  • Comment
  • Editorial

MeSH terms

  • Biological Transport
  • Connective Tissue Diseases / enzymology
  • Connective Tissue Diseases / genetics
  • Connective Tissue Diseases / metabolism*
  • Connective Tissue Diseases / pathology
  • Elastic Tissue / enzymology
  • Elastic Tissue / metabolism*
  • Elastic Tissue / pathology
  • Elastic Tissue / physiopathology
  • Gangliosidosis, GM1 / enzymology
  • Gangliosidosis, GM1 / genetics
  • Gangliosidosis, GM1 / metabolism
  • Gangliosidosis, GM1 / pathology
  • Humans
  • Marfan Syndrome / genetics
  • Marfan Syndrome / metabolism
  • Marfan Syndrome / pathology
  • Menkes Kinky Hair Syndrome / genetics
  • Menkes Kinky Hair Syndrome / metabolism
  • Menkes Kinky Hair Syndrome / pathology
  • Mucopolysaccharidosis I / genetics
  • Mucopolysaccharidosis I / metabolism
  • Mucopolysaccharidosis I / pathology
  • Mucopolysaccharidosis IV / enzymology
  • Mucopolysaccharidosis IV / genetics
  • Mucopolysaccharidosis IV / metabolism
  • Mucopolysaccharidosis IV / pathology
  • Syndrome
  • Williams Syndrome / genetics
  • Williams Syndrome / metabolism
  • Williams Syndrome / pathology
  • beta-Galactosidase / deficiency
  • beta-Galactosidase / genetics
  • beta-Galactosidase / metabolism

Substances

  • beta-Galactosidase