Triosephosphate Isomerase Deficiency
- 1 September 1982
- journal article
- research article
- Published by American Medical Association (AMA) in American Journal of Diseases of Children
- Vol. 136 (9) , 800-802
- https://doi.org/10.1001/archpedi.1982.03970450042011
Abstract
• A 12-year-old girl had chronic nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency. Developmental and motor delay and muscular weakness were followed by cerebellar dysfunction and finally spasticity with hyperreflexia. Abnormal histopathological findings were hyaline cell bodies and axonal "spheroids" in the hypothalamus and cerebellar cortex, severe neuronal loss in the dentate and olivary nuclei, and partial loss of cerebellar Purkinje's and granular layer cells (olivocerebellar atrophy). (Am J Dis Child1982;136:800-802)This publication has 13 references indexed in Scilit:
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