Natural history of Sanfilippo syndrome in Spain

Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder

(2013) Frits A Wijburg et al.   ACTA PAEDIATRICA

Musculoskeletal Manifestations of Sanfilippo Syndrome (Mucopolysaccharidosis Type III)

(2011) Klane K. White et al.   JOURNAL OF PEDIATRIC ORTHOPAEDICS

Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome)

(2011) Marlies J Valstar et al.   Orphanet Journal of Rare Diseases

Mucopolysaccharidosis type III (Sanfilippo disease) in Sweden: clinical presentation of 22 children diagnosed during a 30-year period

(2010) G Malm et al.   ACTA PAEDIATRICA

Mucopolysaccharidosis type IIIA: Clinical spectrum and genotype-phenotype correlations

(2010) Marlies J. Valstar et al.   ANNALS OF NEUROLOGY

Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles

(2010) I Canals et al.   CLINICAL GENETICS

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

(2010) Marlies J. Valstar et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (HGSNAT) gene

(2009) Matthew Feldhammer et al.   HUMAN MUTATION

Sanfilippo syndrome: A mini-review

(2008) M. J. Valstar et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands

(2007) G.J.G. Ruijter et al.   MOLECULAR GENETICS AND METABOLISM