Alle oversættelser

this urine sample showed an increased excretion of chonolrtion sulphate and liparen sulphate .
this pattern is usually characteristic of mucopolysaccharideosis type 3 sanfillippo. of which there are four clincally simillar subtype but with diffrent enzyme defects.
this pattern can also occur in patients with mucolipdosis type 2 and in cases or renal insufficiency.