Triosephosphate isomerase deficiency wit
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Joan-Lluis Vives-Corrons; Henriette Rubinson-Skala; Marina Mateo; JesΓΊs Estella;
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Article
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1978
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Springer
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English
β 506 KB
A 16-month-old girl of Spanish origin with chronic hemolytic anemia and severe neuromuscular disease was found to have markedly reduced triosephosphate isomerase (TPI) activity in her erythrocytes, leukocytes, and plateletes. Both parents and some other family members had moderately reduced erythroc