Rapid identification of San Filippo disease (MPS III)
Kelly, S.; Schedlbauer, L.; Leikhim, E.
Health Laboratory Science 15(3): 123-127
1978
ISSN/ISBN: 0017-9035 PMID: 151669 Document Number: 133648
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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