Article ID Journal Published Year Pages File Type
8312107 Clinica Chimica Acta 2014 4 Pages PDF
Abstract
IDUA eluted from dried blood spots of heterozygotes differs from that of controls in terms of Vmax and thermal stability. These parameters can be used as an important tool for the detection of carriers for MPS I. This is the first report describing a differential behavior of these parameters for a lysosomal enzyme obtained from dried blood.
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Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry
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Identification of mucopolysaccharidosis I heterozygotes based on biochemical characteristics of L-iduronidase from dried blood spots
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