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Article

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.

Journal of inherited metabolic disease - 1 Dec 2010

Valstar Marlies J, Bruggenwirth Hennie T, Olmer Renske, Wevers Ron A, Verheijen Frans W, Poorthuis Ben J, Halley Dicky J, Wijburg Frits A

Abstract excerpt

Mucopolysaccharidosis type IIIB (MPS IIIB, Sanfilippo syndrome type B) is a lysosomal storage disorder caused by deficiency of the enzyme N-acetyl-α-D-glucosaminidase (NAGLU). Information on the natural course of MPS IIIB is scarce but much needed in view of emerging therapies. To improve knowled...

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Source

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Identifiers

PMID: 20852935
DOI: 10.1007/s10545-010-9199-y
PMCID: PMC2992652

Genes

NAGLU

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20852935-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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