Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C>T/c.889C>T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene.

Molecular genetics & genomic medicine - 1 Sept 2020

Pierzynowska Karolina, Mański Arkadiusz, Limanówka Monika, Wierzba Jolanta, Gaffke Lidia, Anikiej Paulina, Węgrzyn Grzegorz

Abstract excerpt

BACKGROUND: Sanfilippo syndrome B (or mucopolysaccharidosis type IIIB [MPS IIIB]) is a severe inherited metabolic disorder caused by mutations in the NAGLU gene, encoding α-N-acetylglucosaminidase. Dysfunction of this enzyme results in impaired degradation of heparan sulfate, one of glycosaminoglycans, and accumulation of this complex carbohydrate in lysosomes. Severe symptoms occurring in this disease are...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Acetylglucosaminidase
Share to Adolescent

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Alleles

Share to Attention

Share to Cognition

Share to Movement

Share to Mucopolysaccharidosis III

Share to Mutation, Missense

Source

Open in PubMed Open full text

Identifiers

PMID: 32578945
DOI: 10.1002/mgg3.1356
PMCID: PMC7507323

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C>T/c.889C>T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene.PMID 32578945Read ↗

Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).Semantic proximity Read ↗

"Genotype-first" approaches on a curious case of idiopathic progressive cognitive decline.Semantic proximity Read ↗

Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.Semantic proximity Read ↗

Highly diverse phenotypes of mucopolysaccharidosis type IIIB sibling patients: effects of an additional mutation in the AUTS2 gene.Semantic proximity Read ↗

Clinical and genetic landscapes of mucopolysaccharidosis type III in 20 Chinese patientsSemantic proximity Read ↗

Genetic features of patients with MPS type IIIB: Description of five pathogenic gene variations.Semantic proximity Read ↗

Clinical and Genetic Landscapes of Mucopolysaccharidosis Type III in 20 Chinese PatientsSemantic proximity Read ↗

Genotype-phenotype correspondence in Sanfilippo syndrome type B.Semantic proximity Read ↗

Sanfilippo syndrome: a mini-review.Semantic proximity Read ↗

How close are we to therapies for Sanfilippo disease?Semantic proximity Read ↗

Schizophreniform presentation and abrupt neurologic decline in a patient with late-onset mucopolysaccharidosis type IIIB.Semantic proximity Read ↗

Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.