1 The University Pediatric Clinic, Aarhus Kommunehospital, Aarhus, Denmark
The present paper is a report on a study of a new screening test elaborated by Dorfman for the demonstration of mucopolysaccharides in small urine samples. The study comprised three patients with gargoylism, their parents and siblings and two control groups consisting of 57 children supposedly without any abnormalities in connective-tissue metabolism and 13 patients with more special diseases. Only the patients with gargoylism showed positive reactions, but a single negative reaction in a randomly selected urine sample does not rule out a diagnosis of gargoylism.
The results suggest that the screening test is a valuable diagnostic aid.
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J.C. Nielchior, J. Clausen, and H.V. Dyggve The Mucopolysaccharidoses: A Clinical and Biochemical Survey Clinical Pediatrics, August 1, 1965; 4(8): 468 - 480. [PDF] |
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