Associated Papers
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
Bioinformatics classification of mutations in patients with Mucopolysaccharidosis IIIA.
Tanwar H et al.
Metabolic Brain Disease, 2019
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
Sanfilippo syndrome: Overall review.
Andrade F et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2015
Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia.
Chistiakov DA et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
[Genetic aspects of mucopolysaccharidoses].
Lacombe D et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2014
Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.
Sidhu NS et al.
Acta Crystallographica. Section D, Biological Crystallography, 2014
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.
Pollard LM et al.
Journal of Inherited Metabolic Disease, 2013
Sanfilippo syndrome: a mini-review.
Valstar MJ et al.
Journal of Inherited Metabolic Disease, 2008
Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.
Emre S et al.
Human Mutation, 2002
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.
Yogalingam G et al.
Human Mutation, 2001
Expression and characterization of wild type and mutant recombinant human sulfamidase. Implications for Sanfilippo (Mucopolysaccharidosis IIIA) syndrome.
Perkins KJ et al.
The Journal of Biological Chemistry, 1999
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.
Di Natale P et al.
Human Mutation, 1998
Novel mutations in Sanfilippo A syndrome: implications for enzyme function.
Weber B et al.
Human Molecular Genetics, 1997