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(1970). Biochemical definition of the mucopolysaccharidoses. Zeitschrift fur Kinderheilkunde, 108, 17-31.","journal-title":"Zeitschrift fur Kinderheilkunde"},{"key":"ref_138","first-page":"337","volume":"25","author":"Spranger, J.W.; Koch, F.; McKusick, V.A.; Natzschka, J.; Wiedemann, H.R.; Zellweger, H.","year":"1970","unstructured":"Spranger, J. W., Koch, F., McKusick, V. A., Natzschka, J., Wiedemann, H. R., and Zellweger, H. (1970). Mucopolysaccharidosis VI (Maroteaux-Lamy's disease). Helvetica Paediatrica Acta, 25, 337-362.","journal-title":"Mucopolysaccharidosis VI (Maroteaux-Lamy's disease). Helvetica Paediatrica Acta"},{"key":"ref_139","article-title":"Mucopolysaccharidosis Type VI (Maroteaux-Lamy syndrome)","author":"Stumpf, D.A.; Austen, J.H.; Crockev, A.C.; La France, M.","year":"1973","unstructured":"Stumpf, D. A., Austen, J. H., Crockev, A. C., and La France, M. (1973). 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J7ournal of Laboratory and","volume":"74","author":"Thomas, G.H.","year":"1969","unstructured":"Thomas, G. H. (1969). P-D-galactosidase in human urine; deficiency in generalised gangliosidosis. J7ournal of Laboratory and Clinical Medicine, 74, 725-731.","journal-title":"Clinical Medicine"},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/0005-2744(69)90110-7","article-title":"Isolation of a novel sulphatase from rat liver","volume":"171","author":"Tudball, N.; Davidson, E.A.","year":"1969","unstructured":"Tudball, N. and Davidson, E. A. (1969). Isolation of a novel sulphatase from rat liver. 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