Associated Papers
Natural history, clinical symptoms, and cognitive development of Japanese patients with mucopolysaccharidosis III.
Seo JH et al.
Molecular Genetics and Metabolism Reports, 2025
Natural History and Molecular Characteristics of Korean Patients with Mucopolysaccharidosis Type III.
Kim MS et al.
Journal of Personalized Medicine, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 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
The natural history of neurocognition in MPS disorders: A review.
Shapiro EG et al.
Molecular Genetics and Metabolism, 2021
Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals.
Nagaoka S et al.
Human Genome Variation, 2021
Emerging links between pediatric lysosomal storage diseases and adult parkinsonism.
Ysselstein D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2019
Next Generation Sequencing and Genome-Wide Genotyping Identify the Genetic Causes of Intellectual Disability in Ten Consanguineous Families from Jordan.
Froukh TJ
The Tohoku Journal of Experimental Medicine, 2017
Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations.
Ouesleti S et al.
World Journal of Pediatrics : Wjp, 2017
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
Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems?
Moog U et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2007
[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
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
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