[50] Enzymic diagnosis of the genetic mucopolysaccharide storage disorders
Authors:
- Hans KresseHKHans Kresse
- Kurt von FiguraKFKurt von Figura
- Udo KleinUKUdo Klein
- Josef GlösslJGJosef Glössl
- Eduard PaschkeEPEduard Paschke
- Regina PohlmannRPRegina Pohlmann
- 1 January 1982
- book chapter
- Published by Elsevier
- Vol. 83, 559-572
Abstract
No abstract availableThis publication has 19 references indexed in Scilit:
- Sanfilippo syndrome type C: assay for acetyl‐CoA: α‐glucosaminide N‐acetyltransferase in leukocytes for detection of homozygous and heterozygous individualsClinical Genetics, 1981
- N -Acetylglucosamine-6-Sulfate Sulfatase Deficiency ReconsideredScience, 1980
- Isolation of UDP-N-acetylgalactosamine-6-sulfate sulfatase from quail oviduct and its action on chondroitin sulfateBiochemical and Biophysical Research Communications, 1979
- The enzymic defect in Morquio's disease: The specificity of N-acetylhexosamine sulfatasesBiochemical and Biophysical Research Communications, 1978
- Deficiencies of Glucosamine-6-Sulfate or Galactosamine-6-Sulfate Sulfatases Are Responsible for Different MucopolysaccharidosesScience, 1978
- Morquio‐like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: Mucopolysaccharidosis IVBAmerican Journal of Medical Genetics, 1977
- Formation of anhydrosugars in the chemical depolymerization of heparinBiochemistry, 1976
- Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid β‐galactosidase deficiencyClinical Genetics, 1976
- N-acetylgalactosamine-6-sulfate sulfatase in man. Absence of the enzyme in Morquio disease.Journal of Clinical Investigation, 1976
- Morquio's syndrome: Deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfataseBiochemical and Biophysical Research Communications, 1974