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Article

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.

Annals of neurology - 1 Dec 2010

Valstar Marlies J, Neijs Sanne, Bruggenwirth Hennie T, Olmer Renske, Ruijter George J G, Wevers Ron A, van Diggelen Otto P, Poorthuis Ben J, Halley Dicky J, Wijburg Frits A

Abstract excerpt

OBJECTIVE: Mucopolysaccharidosis (MPS) IIIA (Sanfilippo syndrome type A) is a lysosomal storage disorder caused by deficiency of the enzyme sulfamidase. Information on the natural course of MPS IIIA is scarce, but is much needed in view of emerging therapies. METHODS: Clinical history and molecular defects of all 110 MPS IIIA patients identified by enzymatic studies in the Netherlands were collected and included...

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PMID: 21061399
DOI: 10.1002/ana.22092

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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