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The Hurler syndrome: detection of patients and heterozygotes using a microassay for α-l-iduronidase in fibroblasts

✍ Scribed by W.J. Kleijer; G.M. Hensing-Wolffers; E.J. Thompson; M.F. Niermeijer


Book ID
115823468
Publisher
Elsevier Science
Year
1981
Tongue
English
Weight
550 KB
Volume
116
Category
Article
ISSN
0009-8981

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α-l-Iduronidase activity in leukocytes:
✍ Kiyoshi Omura; Shinobu Higami; Keiya Tada 📂 Article 📅 1976 🏛 Springer 🌐 English ⚖ 173 KB

The activity of a-L-iduronidase was determined in leukocytes from two patients with the Hurler syndrome, five obligatory heterozygotes, one patient with the Hunter syndrome, and ten normal individuals. It was found that the determination of a-L-iduronidase in leukocytes was a useful method for diffe