Urinary screening for disorders of heteroglycan metabolism
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine,Genetics(clinical),Drug Discovery,Molecular Medicine
Link
http://link.springer.com/content/pdf/10.1007/BF01713010.pdf
Reference29 articles.
1. Aula P, Autio S, Raivo KO, Rapola J (1982) Salla disease. In: Durand P, O'Brien JS (eds) Genetic errors of glycoprotein metabolism. Edi-Ermes, Milan, pp 185–190
2. Berry HK, Spinanger J (1960) A paper spot test useful in the study of Hurler's syndrome. J Lab Clin Med 55:136–138
3. Broadhead DM, Kirk JM, Burt AJ, Gupta V, Ellis PM, Besley GTN (1986) Full expression of Hunter's disease in a female with an X-chromosome deletion leading to non-random inactivation. Clin Genet 30:392–398
4. Cantz M, Kresse H, Barton RW, Neufeld EF (1972) Corrective factors for inborn errors of mucopolysaccharide metabolism. Methods Enzymol 28:884–897
5. DiFerrante N (1967) The measurement of urinary mucopolysaccharides. Analyt Biochem 21:98–106
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