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

Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis (MPS) Type II: Results of up to 14 Years of Follow-Up.

Journal of inherited metabolic disease - 1 Sept 2026

Holdorp J Julia, Kruijshaar M E Michelle, Vollebregt A A M Audrey, Rietman A B Andre, Dijkstra M R K Marianne, Klees C Carina, Wagenmakers M Margreet, Nguyen A H P Annie, Oussoren E Esmee, van der Ploeg A T Ans, van den Hout J M P Hannerieke

Abstract excerpt

This study investigated long-term cognitive development and genotype-phenotype relationships in patients with Mucopolysaccharidosis Type II (MPS II). A nationwide prospective cohort study was conducted in the Netherlands with cognitive follow-up since 2007. Patients were classified as neuronopathic or non-neuronopathic based on iduronate-2-sulphatase (IDS) genotype; novel variants based on age and intelligence...

Read the complete abstract on PubMed

Topics

Humans
Mucopolysaccharidosis II
Male
Child
Child, Preschool

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

Adolescent

Cognition

Follow-Up Studies

Prospective Studies

Longitudinal Studies

Iduronate Sulfatase

Infant

Phenotype

Genotype

Netherlands

Female

Adult

Intelligence

Source

Open in PubMed Open full text

Identifiers

PMID: 42723346
DOI: 10.1002/jimd.70246
PMCID: PMC13562982

Genes

IDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 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

Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis (MPS) Type II: Results of up to 14 Years of Follow-Up.PMID 42723346Read ↗

Development and Longitudinal Neurocognitive Functioning in Mucopolysaccharidosis type IIIC: A Case StudySemantic proximity Read ↗

Cognitive and adaptive behaviors associated with disease severity and genotype in patients with mucopolysaccharidosis II.Semantic proximity Read ↗

Genotype-phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey.Semantic proximity Read ↗

Neurobehavioral phenotypes of neuronopathic mucopolysaccharidosesSemantic proximity Read ↗

The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype.Semantic proximity Read ↗

Natural history of cognitive development in neuronopathic mucopolysaccharidosis type II (Hunter syndrome): Contribution of genotype to cognitive developmental courseSemantic proximity Read ↗

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

Cognitive outcomes and age of detection of severe mucopolysaccharidosis type 1.Semantic proximity Read ↗

Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study.Semantic proximity Read ↗

Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.Semantic proximity Read ↗

Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome)Semantic proximity Read ↗

Can serial cerebral MRIs predict the neuronopathic phenotype of MPS II?Semantic proximity Read ↗

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