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Article

[Mucopolysaccharidosis I, Hurler syndrome: a case report].

Archivos argentinos de pediatria - 1 Oct 2012

Amorín Milagros, Carlin Andrea, Prötzel Ana

Abstract excerpt

Mucopolysaccharidosis I (MPS I) is a rare, recessively inherited, lysosomal storage disorder caused by deficiency on the enzyme a-L-iduronidase. This defect results in accumulation of heparan and dermatan sulfate in different tissues and organs due to a deficiency in the catabolism of glycosaminoglycans. The overall incidence of MPS I is 0.99-1.99/100.000 live births. There are three clinical presentations:...

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PMID: 23070190
DOI: 10.5546/aap.2012.e103

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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