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Hereditary deficiency of triosephosphate isomerase in four unrelated families

✍ Scribed by STEFAN W. EBER; MANFRED DÜNNWALD; BERND H. BELOHRADSKY; FRANK BIDLINGMAIER; HELMUT SCHIEVELBEIN; HANS M. WEINMANN; WOLFGANG K. G. KRIETSCH

Book ID
114726004
Publisher
John Wiley and Sons
Year
1979
Tongue
English
Weight
839 KB
Volume
9
Category
Article
ISSN
0014-2972

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Triosephosphate isomerase deficiency with hemolytic anemia and severe neuromuscular disease. Familial and biochemical studies of a case found in Spain
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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