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The deficiency of alpha-D-mannosidase is demonstrable using the artificial substrate 4-methylumberiferal alpha-D-mannopoyranoside.(Gehler J, Cantz M, Tolksdorf M, et al: Mucopolysaccharidosis. VII. Beta-glucuronidase deficiency. Humangenetik 1974;23[2]:149-158; Cowan T, Pasquali M: Laboratory Investigations of Inborn Errors of Metabolism. In Pediatric Endocrinology and Inborn Errors of Metabolism. Second edition. Edited by K Sarafoglou, GF Hoffman, KS Roth. 2017, pp 1139-1158)
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