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PHENOTYPIC VARIATION IN ALPHA-L-IDURONIDASE DEFICIENCY

โœ Scribed by Leisti, J.; Rimoin, D.L.; Kaback, M.M.; Hollister, D.W.; Den Tandt, W.; Neufeld, E.; Matalon, R.; Philippart, M.


Book ID
122034246
Publisher
The Lancet
Year
1975
Tongue
English
Weight
163 KB
Volume
305
Category
Article
ISSN
0140-6736

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On DEAE cellulose column chromatography, alpha-L-iduronidase in cultured skin fibroblasts was resolved into two distinct components, forms A and B. They had similar Km values for 4-methylumbelliferyl-alpha-L-iduronide, but differed in pH optima and thermal stability. Form B was more heat-stable than