Mucopolysaccharidoses are characterized by the accumulation of undegraded glycosaminoglycans in lysosomes in multiple organs and by their excretion in high amounts in urine. The aim of this study is to determine if this simple, reliable and reproducible method is useful for the diagnosis of Mucopolysaccharidoses.
Importance of the combined urinary procedure for the diagnosis of Mucopolysaccharidoses / Zampini, Lucia; Padella, Lucia; Marchesiello, Rita Lucia; Santoro, Lucia; Monachesi, Chiara; Giovagnoni, Andrea; Catassi, Carlo; Gabrielli, Orazio; Coppa, Giovanni Valentino; Galeazzi, Tiziana. - In: CLINICA CHIMICA ACTA. - ISSN 0009-8981. - 464:(2016), pp. 165-169. [10.1016/j.cca.2016.11.024]
Importance of the combined urinary procedure for the diagnosis of Mucopolysaccharidoses
ZAMPINI, LUCIA;PADELLA, LUCIA;SANTORO, LUCIA;MONACHESI, Chiara;GIOVAGNONI, ANDREA;CATASSI, CARLO;GABRIELLI, ORAZIO;COPPA, Giovanni Valentino;GALEAZZI, Tiziana
2016-01-01
Abstract
Mucopolysaccharidoses are characterized by the accumulation of undegraded glycosaminoglycans in lysosomes in multiple organs and by their excretion in high amounts in urine. The aim of this study is to determine if this simple, reliable and reproducible method is useful for the diagnosis of Mucopolysaccharidoses.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
