ArticleJournal of inherited metabolic disease2010
Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.
Article in Journal of inherited metabolic disease, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 1 of them a synthesis that pooled it.
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Who cites it
59 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Behavioural phenotypes of the mucopolysaccharide disorders: a systematic literature review of cognitive, motor, social, linguistic and behavioural presentation in the MPS disorders.Journal of inherited metabolic disease · 2013Pooled it
- Personalized Drug Repurposing Screen Identifies Patient-Specific Therapeutic Candidates for Mucopolysaccharidosis Type IIIB.Journal of personalized medicine · 2026Article
- A Rare Compound Heterozygous NAGLU Gene Mutation in Two Siblings with Mucopolysaccharidosis type Iiib.Iranian journal of pathology · 2026Article
- Economic burden of Sanfilippo syndrome in the United States.Archives of public health = Archives belges de sante publique · 2025Article
- Exploring Molecular and Phenotypic Characteristics ofMolecular syndromology · 2025Article
- A Drosophila model of mucopolysaccharidosis IIIB.Genetics · 2025Article
- Clinical and Molecular Characterization of Mucopolysaccharidosis Type 3A and 3B in a Turkish Series.Molecular syndromology · 2024Article
- Characterization of early markers of disease in the mouse model of mucopolysaccharidosis IIIB.Journal of neurodevelopmental disorders · 2024Article
- Early-onset motor polyneuropathy associated with a novel dominant NAGLU mutation.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Article
- Sanfilippo syndrome: consensus guidelines for clinical care.Orphanet journal of rare diseases · 2022Review
- Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome.Diagnostics (Basel, Switzerland) · 2022Article
- Heparan Sulfate, Mucopolysaccharidosis IIIB and Sulfur Metabolism Disorders.Antioxidants (Basel, Switzerland) · 2022Review
- Neurological, neurobehavioral, and radiological alterations in patients with mucopolysaccharidosis III (Sanfilippo's syndrome) in Brazil.Frontiers in neurology · 2022Article
- The significance of triple-capsid-mutant AAV8 for treatment of Sanfilippo Syndrome Type B.Archives of stem cell and therapy · 2022Article
- Gastrointestinal Manifestations in Mucopolysaccharidosis Type III: Review of Death Certificates and the Literature.Journal of clinical medicine · 2021Article
- A GH89 human α-N-acetylglucosaminidase (hNAGLU) homologue from gut microbe Bacteroides thetaiotaomicron capable of hydrolyzing heparosan oligosaccharides.AMB Express · 2021Article
- Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novelMolecular genetics and metabolism reports · 2021Article
- Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients.Frontiers in neurology · 2021Article
- Cell-Mediated Immunity to NAGLU Transgene Following Intracerebral Gene Therapy in Children With Mucopolysaccharidosis Type IIIB Syndrome.Frontiers in immunology · 2021Article
- Molecular Bases of Neurodegeneration and Cognitive Decline, the Major Burden of Sanfilippo Disease.Journal of clinical medicine · 2020Review
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8 authors.
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Abstract
Mucopolysaccharidosis type IIIB (MPS IIIB, Sanfilippo syndrome type B) is a lysosomal storage disorder caused by deficiency of the enzyme N-acetyl-α-D-glucosaminidase (NAGLU). Information on the natural course of MPS IIIB is scarce but much needed in view of emerging therapies. To improve knowledge on the natural course, data on all 52 MPS IIIB patients ever identified by enzymatic studies in the Netherlands were gathered. Clinical data on 44 patients could be retrieved. Only a small number (n = 9; 21%) presented with a classical MPS III phenotype; all other patients showed a much more attenuated course of the disease characterized by a significantly slower regression of intellectual and motor abilities. The majority of patients lived well into adulthood. First signs of the disease, usually mild developmental delay, were observed at a median age of 4 years. Subsequently, patients showed a slowing and eventually a stagnation of development. Patients with the attenuated phenotype had a stable intellectual disability for many years. Molecular analysis was performed in 24 index patients. The missense changes p.R643C, p.S612G, p.E634K, and p.L497V were exclusively found in patients with the attenuated phenotype. MPS IIIB comprises a remarkably wide spectrum of disease severity, and an unselected cohort including all Dutch patients showed a large proportion (79%) with an attenuated phenotype. MPS IIIB must be considered in patients with a developmental delay, even in the absence of a progressive decline in intellectual abilities. A key feature, necessitating metabolic studies, is the coexistence of behavioral problems.
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