The early diagnosis of Maroteaux-Lamy syndrome with confirmation of arylsulphatase deficiency
Van Biervliet, J.P.; Van Leeuwen, E.F.; Abeling, N.G.; De Jonge, H.F.; Liem, K.O.; Wadman, S.K.
Archives Francaises de Pediatrie 34(4): 362-370
1977
ISSN/ISBN: 0003-9764 PMID: 142458 Document Number: 122168
The absence of aryl sulphatase B (Maroteaux-Lamy syndrome) has been confirmed in a five month old child. The estimation of urine mucopolysaccharides and enzyme studies on cultured fibroblasts were performed at an early stage.
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