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Article

Mild mental retardation and low levels of urinary heparan sulfate in a patient with the attenuated phenotype of mucopolysaccharidosis type IIIA.

Clinical biochemistry - 1 May 2013

Coppa Giovanni V, Galeotti Fabio, Zampini Lucia, Galeazzi Tiziana, Padella Lucia, Santoro Lucia, Maccari Francesca, Gabrielli Orazio, Volpi Nicola

Abstract excerpt

OBJECTIVES: We report the case of a 28-year-old female subject affected by the attenuated phenotype of mucopolysaccharidosis type IIIA characterized by moderate slowly evolving mental retardation in which the urinary content of heparan sulfate was demonstrated as being substantially low compared...

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Identifiers

PMID: 23274385
DOI: 10.1016/j.clinbiochem.2012.12.014

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23274385-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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