α-L-iduronidase deficiency in mucopolysaccharidosis type I against a radio-labelled sulfated disaccharide substrate derived from dermatan sulfate
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1984.tb01081.x/fullpdf
Reference24 articles.
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3. A radioactive substrate and assay for α-L-iduronidase;Di Natale;Clin. Chim. Acta,1977
4. Detection of the carrier state of Hurler's Syndrome by assay of α-L-iduronidase in leukocytes;Dulaney;Clin. Chim. Acta,1976
5. Hybridization studies of fibroblasts from Hurler, Scheie & Hurler/Scheie Compound Patients: Support for the hypothesis of allelic mutants;Fortuin;Hum. Genet.,1980
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2. Prenatal Diagnosis of the Mucopolysaccharidoses and Postnatal Enzyme Replacement Therapy;Genetic Disorders and the Fetus;2010-09-24
3. Hurler syndrome: A patient with abnormally high levels of α-l-iduronidase protein;Biochemical Medicine and Metabolic Biology;1992-06
4. α-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype;Human Mutation;1992
5. A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype;Human Mutation;1992
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