Abstract

This paper documents GM₁ gangliosidosis type I with clinical, radiological and necropsy findings, and reports the activity of beta galactosidase in the leukocytes of the patients and his parents as compared to the normal newborn and adults. We have postulated that beta galactosidase activity is higher in the newborn period due to high sphingolipid turnover.

How to cite

1.
Oran O, Demirsoy S, Oğuz A, Çağlar M, Karan A, Yılgör E. Gm₁ gangliosidosis type I (norman-landing disease) (Report of a Case with Enzymatic Analysis of the Family). Turk J Pediatr 1980; 22: 59-64. https://doi.org/10.24953/turkjpediatr.1980.4151