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Article

Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB.

Journal of inherited metabolic disease - 1 May 2016

Meijer O L M, Welling L, Valstar M J, Hoefsloot L H, Brüggenwirth H T, van der Ploeg A T, Ruijter G J G, Wagemans T, Wijburg F A, van Vlies N

Abstract excerpt

BACKGROUND: Mucopolysaccharidosis type IIIB (MPS IIIB) is a rare genetic disorder in which the deficiency of the lysosomal enzyme N-acetyl-α-glucosaminidase (NAGLU) results in the accumulation of heparan sulfate (HS), leading to progressive neurocognitive deterioration. In MPS IIIB a wide spectrum of disease severity is seen. Due to a large allelic heterogeneity, establishing genotype-phenotype correlations is...

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Identifiers

PMID: 26907177
DOI: 10.1007/s10545-016-9916-2
PMCID: PMC4851702

Genes

NAGLU

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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