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GLUCOSEPHOSPHATE ISOMERASE DEFICIENCY IN A DUTCH FAMILY
Author(s) -
BIERVLIET J. P. G. M. VAN
Publication year - 1975
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1975.tb03939.x
Subject(s) - medicine , mentally retarded , endocrinology , pediatrics , developmental psychology , psychology
Van Biervliet, J. P. G. M. (University Children's Hospital, Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands). Glucosephosphate isomerase deficiency in a Dutch family. Acta Paediatr Scand, 64: 868, 1975.–A mentally retarded girl with severe hemolytic anemia due to glucosephosphate isomerase deficiency is described. The deficiency was detected in erythrocytes, leukocytes, thrombocytes, liver and muscle tissues. Besides the glucosephosphate isomerase deficiency, a glutathione instability of unknown origin was found in the erythrocytes of the propositus.