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

A case report of Sanfilippo syndrome - the long way to diagnosis.

BMC neurology - 15 Mar 2022

Lorenz Delia, Musacchio Thomas, Kunstmann Erdmute, Grauer Eva, Pluta Natalie, Stock Annika, Speer Christian P, Hebestreit Helge

Abstract excerpt

BACKGROUND: Mucopolysaccharidosis type III (Sanfilippo syndrome) is a lysosomal storage disorder, caused by a deficiency in the heparan-N-sulfatase enzyme involved in the catabolism of the glycosaminoglycan heparan sulfate. It is characterized by early nonspecific neuropsychiatric symptoms, followed by progressive neurocognitive impairment in combination with only mild somatic features. In this patient group with...

Read the complete abstract on PubMed

Topics

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

Share to Delayed Diagnosis
Share to Genetic Association Studies

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

Share to Mucopolysaccharidosis III

Share to Mutation

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 35291973
DOI: 10.1186/s12883-022-02611-7
PMCID: PMC8922843

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

A case report of Sanfilippo syndrome - the long way to diagnosis.PMID 35291973Read ↗

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

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

Natural history of Sanfilippo syndrome in SpainSemantic proximity Read ↗

Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene.Semantic proximity Read ↗

Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches.Semantic proximity Read ↗

[Sanfilippo Syndrome].Semantic proximity Read ↗

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

Sanfilippo syndrome: consensus guidelines for clinical careSemantic proximity Read ↗

Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece.Semantic 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 ↗

Sanfilippo syndrome type A with acute metabolic acidosis: a case report of the first documented SGSH c.571G > A homozygous mutation.Semantic proximity Read ↗

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