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

Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.

Annals of neurology - 1 Nov 2017

Knottnerus Suzan J G, Nijmeijer Stephanie C M, IJlst Lodewijk, Te Brinke Heleen, van Vlies Naomi, Wijburg Frits A

Abstract excerpt

OBJECTIVE: Mucopolysaccharidosis IIIA or Sanfilippo disease type A is a progressive neurodegenerative disorder presenting in early childhood, caused by an inherited deficiency of the lysosomal hydrolase sulfamidase. New missense mutations, for which genotype-phenotype correlations are currently unknown, are frequently reported, hampering early prediction of phenotypic severity and efficacy assessment of new...

Read the complete abstract on PubMed

Topics

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

Share to Cell Culture Techniques
Share to Disease Progression

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fibroblasts

Share to Hydrolases

Share to Limit of Detection

Share to Mucopolysaccharidosis III

Share to Predictive Value of Tests

Share to Temperature

Source

Open in PubMed Open full text

Identifiers

PMID: 29023963
DOI: 10.1002/ana.25069
PMCID: PMC5725696

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.PMID 29023963Read ↗

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.Semantic proximity Read ↗

Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients.Semantic proximity Read ↗

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

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

Sanfilippo syndrome: causes, consequences, and treatmentsSemantic proximity Read ↗

Survey of Patients With Sanfilippo Type a (MPS IIIA) Disease Diagnosed by the MPS Brazil Network.Semantic proximity Read ↗

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

Extraneurologic symptoms as presenting signs of Sanfilippo disease.Semantic proximity Read ↗

Diagnosis of MucopolysaccharidosesSemantic proximity Read ↗

Glycosaminoglycans and mucopolysaccharidosis type III.Semantic proximity Read ↗

Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.Semantic proximity Read ↗

A case report of Sanfilippo syndrome - the long way to diagnosis.Semantic proximity Read ↗

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