Associated Papers
Rare-variant burden across lysosomal genes implicates sialylation and ganglioside metabolism in Parkinson's disease.
Senkevich K et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
Natural history, clinical symptoms, and cognitive development of Japanese patients with mucopolysaccharidosis III.
Seo JH et al.
Molecular Genetics and Metabolism Reports, 2025
Mucopolysaccharidoses-What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview.
Lipiński P et al.
Biomolecules, 2025
Whole-Exome sequencing and systems biology approaches revealed pathogenicity of compound heterozygote variants of NAGLU gene manifesting developmental regression, brain atrophy, intellectual disability, and ADHD.
Moeinifar N et al.
Molecular Biology Reports, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024.
Ahmad R et al.
Neurogenetics, 2025
The Birth Prevalence of Mucopolysaccharidosis Types I, II, III, IVA, VI, and VII in the Republic of Kazakhstan Between 1984 and 2023.
Tulebayeva A et al.
Diagnostics (basel, Switzerland), 2025
The genetic cause of neurodevelopmental disorders in 30 consanguineous families.
Paracha SA et al.
Frontiers in Medicine, 2024
Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB.
Okur I et al.
The Journal of Pediatrics, 2022
Natural History and Molecular Characteristics of Korean Patients with Mucopolysaccharidosis Type III.
Kim MS et al.
Journal of Personalized Medicine, 2022
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.
Montenegro YHA et al.
American Journal of Medical Genetics. Part A, 2022
Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations.
Ozkinay F et al.
Molecular Genetics and Metabolism Reports, 2021
Genotype to Phenotype: Identification of Mucopolysaccharidosis Type IIIB (Sanfilippo's B) Case Using Whole Exome Sequencing.
Elmas M et al.
Journal of Pediatric Genetics, 2021
Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants.
Encarnação M et al.
International Journal of Molecular Sciences, 2020
Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience.
Elmas M et al.
Molecular Syndromology, 2020
Utilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence.
Clark WT et al.
Plos One, 2018
Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series.
Yassaee VR et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
Processing of mutant N-acetyl-α-glucosaminidase in mucopolysaccharidosis type IIIB fibroblasts cultured at low temperature.
Meijer OLM et al.
Molecular Genetics and Metabolism, 2017
Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB.
Meijer OLM et al.
Journal of Inherited Metabolic Disease, 2016
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
Di Fruscio G et al.
Autophagy, 2015
Mucopolysaccharidosis type IIIB mutations in Chinese patients: identification of two novel NAGLU mutations and analysis of two cases involving prenatal diagnosis.
Tang J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Najmabadi H et al.
Nature, 2011
Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.
Valstar MJ et al.
Journal of Inherited Metabolic Disease, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan.
Chinen Y et al.
Journal of Human Genetics, 2005
Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).
Beesley CE et al.
Journal of Inherited Metabolic Disease, 2005
Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.
Bunge S et al.
Journal of Medical Genetics, 1999