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  • Title: Rapid identification of San Filippo disease (MPS III).
    Author: Kelly S, Schedlbauer L, Leikhim E.
    Journal: Health Lab Sci; 1978 Jul; 15(3):123-7. PubMed ID: 151669.
    Abstract:
    Humbel's thin-layer chromatography of urine was a rapid, reliable means of identifying type of mucopolysaccharide storage disease in 30 patients. Over half had Hurler-Scheie or Hunter disease (MPS I-V or II); eight had San Filippo disease, of which four expressed the Type B form.
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