Associated Papers
Utility of whole exome sequencing in the evaluation of isolated fetal growth restriction in normal chromosomal microarray analysis.
Shi X et al.
Annals of Medicine, 2025
Natural history, clinical symptoms, and cognitive development of Japanese patients with mucopolysaccharidosis III.
Seo JH et al.
Molecular Genetics and Metabolism Reports, 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
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
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic 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
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
Barbosa-Gouveia S et al.
Genes, 2021
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
Epidemiology of Mucopolysaccharidoses Update.
Çelik B et al.
Diagnostics (basel, Switzerland), 2021
An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan.
Lin HY et al.
Diagnostics (basel, Switzerland), 2019
Biochemical, machine learning and molecular approaches for the differential diagnosis of Mucopolysaccharidoses.
Kadali S et al.
Molecular and Cellular Biochemistry, 2019
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
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
"Genotype-first" approaches on a curious case of idiopathic progressive cognitive decline.
Shi L et al.
Bmc Medical Genomics, 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
Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.
Valstar MJ et al.
Journal of Inherited Metabolic Disease, 2010
Hemiatrophy of the spinal cord in a patient with mucopolysaccharidosis type IIIB.
Samia P et al.
Journal of Child Neurology, 2010
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
[Case of Sanfilippo syndrome type B and Wilson disease born to unrelated parents].
Takaura N et al.
No to Hattatsu = Brain and Development, 2006
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
Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).
Lee-Chen GJ et al.
Journal of Medical Genetics, 2002
Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations.
Tanaka A et al.
Journal of Human Genetics, 2002
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.
Yogalingam G et al.
Human Mutation, 2001
Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes.
Weber B et al.
European Journal of Human Genetics : Ejhg, 1999
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