Hurler syndrome: A patient with abnormally high levels of α-l-iduronidase protein
- 30 June 1992
- journal article
- case report
- Published by Elsevier in Biochemical Medicine and Metabolic Biology
- Vol. 47 (3) , 211-220
- https://doi.org/10.1016/0885-4505(92)90028-w
Abstract
No abstract availableKeywords
This publication has 18 references indexed in Scilit:
- Immunopurification and characterization of human α-l-iduronidase with the use of monoclonal antibodiesBiochemical Journal, 1989
- α‐L‐iduronidase deficiency in mucopolysaccharidosis type I against a radio‐labelled sulfated disaccharide substrate derived from dermatan sulfateClinical Genetics, 1984
- Hurler, Scheie, and Hurler-Scheie ‘compound’: Residual activity of α-l-iduronidase toward natural substrates suggesting allelic mutationsJournal of Inherited Metabolic Disease, 1983
- Partial Enzyme Deficiencies: Residual Activities and the Development of Neurological DisordersDevelopmental Neuroscience, 1983
- Diagnostic Enzymology of a-L-Iduronidase with Special Reference to a Sulphated Disaccharide Derived from HeparinClinical Science, 1982
- The mucopolysaccharidoses: Biochemistry and clinical symptomsJournal of Molecular Medicine, 1981
- Biochemical Discrimination of Hurler and Scheie SyndromesClinical Science, 1979
- A fluorometric assay using 4-methylumbelliferyl α-l-iduronide for the estimation of α-l-iduronidase activity and the detection of Hurler and Scheie syndromesClinica Chimica Acta; International Journal of Clinical Chemistry, 1979
- VARIABILITY OF FIBROBLAST LYSOSOMAL ACID HYDROLASES WITH REFERENCE TO THE DETECTION OF ENZYME DEFICIENCIESImmunology & Cell Biology, 1977
- Studies on glucosaminidase. 4. The fluorimetric assay of N-acetyl-β-glucosaminidaseBiochemical Journal, 1961