| Literature DB >> 3106711 |
I V Tsvetkova, N A Petushkova, T V Zolotuchina, V I Kucharenko, E L Rosenfeld.
Abstract
A 7-year-old boy from a Russian family with decreased vision and a cherry-red spot but without any somatic and mental abnormalities is described in this paper. The decreased neuraminidase activity in the child's leukocytes and cultured skin fibroblasts and his 10-fold increase in urinary sialyloligosaccharides allowed us to conclude that he was affected by type I sialidosis. Some other results of the biochemical study of this child and his parents are presented. It is the first case of sialidosis in the Russian population.Entities:
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Year: 1987 PMID： 3106711 DOI： 10.1007/bf01799483
Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982