the diagnosis of multiple sulphatase deficiency rests on the presence of mps and sulphatides in the urine , the finding of a mixed storage process in conjunctival biopsy and the demonstration of deficiencies in arylsulphatases a , b , c , iduronate sulphatase and heparan sulphatase in serum , leukocytes and cultured fibroblasts .
C0011900
diagnosis
C0037088
finding