Associated Papers
Clinical, biochemical, and molecular characterization of a cohort of Egyptian patients with Sanfilippo B syndrome (MPS IIIB): Bayesian Gaussian mixture model.
Fateen E et al.
Molecular Biology Reports, 2025
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
Autism spectrum disorder in patients with inherited metabolic disorders-a large sample from a tertiary center.
Yoldaş TÇ et al.
The Turkish Journal of Pediatrics, 2021
A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions.
Selmer KK et al.
European Journal of Human Genetics : Ejhg, 2012
Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB).
Champion KJ et al.
Molecular Genetics and Metabolism, 2010
Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).
Beesley CE et al.
Journal of Inherited Metabolic Disease, 2005
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