Associated Papers
A Rare Compound Heterozygous NAGLU Gene Mutation in Two Siblings with Mucopolysaccharidosis type Iiib.
Vahedi-Larijani L et al.
Iranian Journal of Pathology, 2026
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.
Sheth J et al.
Jimd Reports, 2024
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
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
Aguiar T et al.
Frontiers in Genetics, 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
Mucopolysaccharidosis III: Molecular basis and treatment.
Spahiu L et al.
Pediatric Endocrinology, Diabetes, and Metabolism, 2021
The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype.
Nijmeijer SCM et al.
Orphanet Journal of Rare Diseases, 2019
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know.
Filocamo M et al.
Italian Journal of Pediatrics, 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
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
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
Sanfilippo syndrome: causes, consequences, and treatments.
Fedele AO
The Application of Clinical Genetics, 2015
[Genetic aspects of mucopolysaccharidoses].
Lacombe D et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2014
Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB.
Chang YT et al.
Biomedicine, 2014
A novel mutation (c.200T>C) in the NAGLU gene of a Korean patient with mucopolysaccharidosis IIIB.
Kim YE et al.
Annals of Laboratory Medicine, 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
Sanfilippo syndrome: a mini-review.
Valstar MJ et al.
Journal of Inherited Metabolic Disease, 2008
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
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
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
Sleep-related hypermotor epilepsy in a patient with mucopolysaccharidosis type III.
Abramova AA et al.
Sleep Science (sao Paulo, Brazil), 0