ArticleMolecular genetics and metabolism reports2021
Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel
Article in Molecular genetics and metabolism reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 16 citations in OpenAlex.
- Molecular Modeling of N-Acetylglucosamine Binding to the I154R Mutant of NAGLU: Pathogenic Insights into Sanfilippo Syndrome Type B.International journal of molecular sciences · 2026Article
- Variant profile of Brazilian patients with Sanfilippo syndrome type B.Genetics and molecular biology · 2026Article
- A Rare Compound Heterozygous NAGLU Gene Mutation in Two Siblings with Mucopolysaccharidosis type Iiib.Iranian journal of pathology · 2026Article
- Comprehensive Characterization of a Cluster of Mucopolysaccharidosis IIIB in Ecuador.Diagnostics (Basel, Switzerland) · 2025Article
- Exploring Molecular and Phenotypic Characteristics ofMolecular syndromology · 2025Article
- CRISPR/Cas9 technology in the modeling of and treatment of mucopolysaccharidosis.Biochemistry and biophysics reports · 2024Review
- Clinical and Molecular Characterization of Mucopolysaccharidosis Type 3A and 3B in a Turkish Series.Molecular syndromology · 2024Article
- Disease progression in Sanfilippo type B: Case series of Brazilian patients.Genetics and molecular biology · 2024Article
- Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing.Frontiers in genetics · 2023Article
- Article
- Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases.Biomedicines · 2022Review
- Mucopolysaccharidosis: A broad review.Indian journal of ophthalmology · 2022Review
- Neurological, neurobehavioral, and radiological alterations in patients with mucopolysaccharidosis III (Sanfilippo's syndrome) in Brazil.Frontiers in neurology · 2022Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimMucopolysaccharidosis type III B (MPS IIIB) is an autosomal recessive lysosomal storage disease caused by mutations in the MATERIAL AND
methodsThirteen MPS IIIB patients from 11 families were included in this study. All patients were both clinically and molecularly diagnosed.
resultsTen different mutations from the 13 MPS IIIB patients were identified. Eight of the 10 mutations were missense, one was splice site, and one large deletion was also observed. Two mutations c.509G>T (p.Gly170Val) and c.700C>G (p.Arg234Gly) have been defined for the first time in this study.
conclusionOur study expanded the mutation spectrum of the
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