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Oprindelig tekst - Engelsk - this urine sample showed an increased excretion...

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this urine sample showed an increased excretion...
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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.
26 November 2007 21:43