Comprehensive urinary screening for inborn errors of complex carbohydrate metabolism
- 1 June 1979
- journal article
- Published by Springer Nature in Klinische Wochenschrift
- Vol. 57 (11) , 581-585
- https://doi.org/10.1007/bf01491137
Abstract
Es wird ein einfaches und umfassendes Screening-Programm für Störungen im Katabolismus komplexer Kohlenhydrate beschrieben. Die Untersuchungsergebnisse bei 44 Patienten mit verschiedenen Heteroglykanosen werden dargestellt. A rapid and comprehensive urinary screening programme is presented by which most of the ‘heteroglycanoses’ can be identified. The diagnoses obtained on a total of 44 patients with different storage disorders shows the usefulness of the method.Keywords
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