Comprehensive urinary screening for inborn errors of complex carbohydrate metabolism

descriptionPublicationkeyboard_double_arrow_right Article 01 Jun 1979 English Publisher:Springer Science and Business Media LLCJournal:Klinische Wochenschrift, volume 57, pages 581-585 (issn: 0023-2173, eissn: 1432-1440,

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Authors: A C, Sewell; J, Gehler; J, Spranger;

doi: 10.1007/bf01491137

pmid: 156813

Comprehensive urinary screening for inborn errors of complex carbohydrate metabolism

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Abstract

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.

Related Organizations

University Hospital Würzburg
Germany
Universitäts-Kinderklinik Würzburg
Germany

Keywords

Electrophoresis, Keratan Sulfate, Humans, Mass Screening, Chromatography, Thin Layer, Mucopolysaccharidoses, Carbohydrate Metabolism, Inborn Errors, Glycosaminoglycans

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