Transferase-deficiency galactosemia: evidence for the lack of a transferase protein in galactosemic red cells |
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Authors: | M W Andersen V P Williams G R Helmer C Fried G Popják |
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Institution: | Department of Biochemistry and Biophysics, University of Rhode Island, Kingston, Rhode Island 02881 USA |
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Abstract: | Red blood cell lysates from normal individuals, a homozygous Duarte variant, and a patient with transferase-deficiency galactosemia were challenged with rabbit antibody to pure human placental galactose-1-phosphate uridylyltransferase. Although the antibody quantitatively precipitated the enzymatically active proteins in the normal and Duarte hemolysates, the Duarte sample absorbed only about one-half as much antibody as did the normal. In contrast, the antibody did not react with the galactosemic hemolysate. |
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Keywords: | Author to whom correspondence should be addressed |
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