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Screening of inherited oligosaccharidurias among mentally retarded patients in northern Finland


, : Screening of inherited oligosaccharidurias among mentally retarded patients in northern Finland. Journal of Mental Deficiency Research 30: 365-368

Urinary oligosaccharides were screened with thin-layer chromatography among 1058 mentally retarded patients of a geographically defined area with an approximate population of 200,000. Aspartylglucosaminuria was detected in 26 cases and Salla disease in 24 cases. All patients with aspartylglucosaminuria had the correct diagnosis before the screening, whereas two new cases of Salla disease were detected. No other inherited metabolic diseases were found. The results demonstrate the accuracy of the TLC method, and indicate a high gene frequency of those two lysosomal storage diseases in the population of northern Finland.

US$29.90

PMID: 3806663


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