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Clinical Picture
(1995) Arisoy A.E.; Tunnessen W.W.; Jr.
A 4-YEAR-OLD girl with a pink birthmark covering the right side of her face (Figure 1 and Figure 2) developed recurrent seizures. A plain roentgenogram of the skull (Figure 3) was obtained to support the suspected diagnosis. © 1995, American Medical Association. All rights reserved.
Tay-Sachs disease: a case report.
(1995) Arisoy A.E.; Ozden S.; Ciliv G.; Ozalp I.
Tay-Sachs disease (GM2 gangliosidosis I) is an autosomal recessive lysosomal-storage disorder confined to the central nervous system, resulting from deficiency of hexosaminidase A. The case presented is of a twelve-month-old girl brought to the hospital because of mental-motor deterioration and convulsions. She was the child of first cousins and had a history of the deaths of two siblings with the same manifestations. Generalized hypotonia, macrocephaly, hyperacusis and a retinal cherry red spot appearance were present. There was no organomegaly. The diagnosis of Tay-Sachs disease was made by means of absence of serum hexosaminidase A activity.