Usefulness and limits of a new method for biochemical screening of lysosomal storage diseases
De Falco, F.A.; Strisciuglio, P.; Sannolo, N.; Bartiromo, U.; Mundo, P.; Di Domenico, G.
Acta Neurologica 3(6): 746-749
1981
ISSN/ISBN: 0001-6276 PMID: 7337003 Document Number: 595
Results of screening for glycoprotein storage diseases in a large population of mentally retarded patients originating from Campania, a region of Southern Italy, are reported. A recently described method based on TLC was used. From 245 patients with mental retardation of unknown etiology, selected from a larger group of 540 subjects, no cases of pathological oligosacchariduria were detected. These diseases have a low incidence in Campania and other clinical signs should be taken into account when screening for these disorders.
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