VOPROSY MEDITSINSKOI KHIMII (ISSN 0042-8809)

Biochemical diagnosis of sialidosis in a child with a 'cherry spot' in the fundus oculi as the main clinical symptom of the disease

   
Tsvetkova I.V., Petushkova N.A., Rozenfel'd E.L., Barashnev Iu.I., Semiachkina A.N.
PubMed Id: 6241373
Year: 1984  Volume: 30  Issue: 5  Pages: 81-83
Biochemical study of a 6 years old child with decreased visus and cherry red spot but without any somatic and mental abnormalities was carried out. Leukocyte lysosomal hydrolases exhibited a distinct deficiency of neuraminidase activity in the child and a decrease of the enzyme activity in the parents of the child. The neuraminidase activity in leukocytes of mother and father constituted 37% and 53% of the control values, respectively; these data enabled to consider the parents as heterozygotes. Excretion of total sialylolygosaccharides with urine was increased 4-5-fold in the patient as compared with suitable controls. It was concluded that the patient studied was affected by sialidosis of the type I.
Download PDF:  
Citation:

Tsvetkova, I. V., Petushkova, N. A., Rozenfel'd, E. L., Barashnev, Iu. I., Semiachkina, A. N. (1984). Biochemical diagnosis of sialidosis in a child with a 'cherry spot' in the fundus oculi as the main clinical symptom of the disease. Voprosy Meditsinskoi Khimii, 30(5), 81-83.
References
 1984 (vol 30)
 1983 (vol 29)
 1982 (vol 28)
 1981 (vol 27)
 1980 (vol 26)
 1979 (vol 25)
 1978 (vol 24)
 1977 (vol 23)
 1976 (vol 22)
 1975 (vol 21)
 1974 (vol 20)
 1973 (vol 19)
 1972 (vol 18)
 1971 (vol 17)
 1970 (vol 16)
 1969 (vol 15)
 1968 (vol 14)
 1967 (vol 13)
 1966 (vol 12)
 1965 (vol 11)
◄        ►