Associated Papers
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
Disease progression in Sanfilippo type B: Case series of Brazilian patients.
Montenegro YHA et al.
Genetics and Molecular Biology, 2024
Germline mutations and developmental mosaicism underlying EGFR-mutant lung cancer.
Burr R et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.
Jiang Y et al.
Nature Communications, 2022
Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB.
Okur I et al.
The Journal of Pediatrics, 2022
Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome.
Fernández-Hernández L et al.
Diagnostics (basel, Switzerland), 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
Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period.
Lin HY et al.
American Journal of Medical Genetics. Part A, 2018
Utilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence.
Clark WT et al.
Plos One, 2018
Epidemiology of mucopolysaccharidoses.
Khan SA et al.
Molecular Genetics and Metabolism, 2017
Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons.
Matalonga L et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2015
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.
Fernández-Marmiesse A et al.
Orphanet Journal of Rare Diseases, 2014
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
Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula.
Mangas M et al.
Clinical Genetics, 2008
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.
Yogalingam G et al.
Human Mutation, 2001
Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations.
Coll MJ et al.
Journal of Inherited Metabolic Disease, 2001
Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).
Beesley CE et al.
Journal of Medical Genetics, 1998