The Hurler syndrome: detection of patients and heterozygotes using a microassay for α-l-iduronidase in fibroblasts
- 1 October 1981
- journal article
- research article
- Published by Elsevier in Clinica Chimica Acta; International Journal of Clinical Chemistry
- Vol. 116 (1) , 47-54
- https://doi.org/10.1016/0009-8981(81)90167-4
Abstract
No abstract availableKeywords
This publication has 20 references indexed in Scilit:
- Prenatal Diagnosis of Genetic Metabolic Diseases in 118 Pregnancies at RiskPublished by S. Karger AG ,1977
- Simplified assay method of α-l-iduronidase activity in leukocytes for detection of hurler syndrome and its carriersClinica Chimica Acta; International Journal of Clinical Chemistry, 1977
- Hurler Syndrome: α-L-Iduronidase Activity in Leukocytes as a Method for Heterozygote DetectionPediatric Research, 1976
- Detection of the carrier state of Hurler's syndrome by assay of α-l-iduronidase in leukocytesClinica Chimica Acta; International Journal of Clinical Chemistry, 1976
- Leucocyte values of alpha-L-iduronidase activity in mucopolysaccharidosis I.Journal of Medical Genetics, 1976
- Prenatal diagnosis of lysosomal storage diseasesJournal of Molecular Histology, 1975
- The use of α-l-iduronidase activity determinations in leucocytes for the detection of hurler and scheie syndromesClinica Chimica Acta; International Journal of Clinical Chemistry, 1975
- A method for α‐L‐iduronidase assayFEBS Letters, 1974
- α-l-Iduronidase activity in cultured skin fibroblasts and amniotic fluid cellsArchives of Biochemistry and Biophysics, 1973
- Hurler's syndrome, an a-L-iduronidase deficiencyBiochemical and Biophysical Research Communications, 1972