Associated Papers
A case report of Sanfilippo syndrome - the long way to diagnosis.
Lorenz D et al.
Bmc Neurology, 2022
An Engineered sgsh Mutant Zebrafish Recapitulates Molecular and Behavioural Pathobiology of Sanfilippo Syndrome A/MPS IIIA.
Douek AM et al.
International Journal of Molecular Sciences, 2021
The natural history of neurocognition in MPS disorders: A review.
Shapiro EG et al.
Molecular Genetics and Metabolism, 2021
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know.
Filocamo M et al.
Italian Journal of Pediatrics, 2018
A multiparametric computational algorithm for comprehensive assessment of genetic mutations in mucopolysaccharidosis type IIIA (Sanfilippo syndrome).
Ugrinov KG et al.
Plos One, 2015
Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.
Sidhu NS et al.
Acta Crystallographica. Section D, Biological Crystallography, 2014
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.
Valstar MJ et al.
Annals of Neurology, 2010
Gene symbol: SGSH. Disease: Sanfilippo syndrome type A.
Zhang W et al.
Human Genetics, 2008
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).
Meyer A et al.
Human Mutation, 2008
Sanfilippo syndrome: a mini-review.
Valstar MJ et al.
Journal of Inherited Metabolic Disease, 2008
An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene.
Gabrielli O et al.
American Journal of Medical Genetics. Part A, 2005
Analysis of Sanfilippo A gene mutations in a large pedigree.
Di Natale P et al.
Clinical Genetics, 2003
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.
Yogalingam G et al.
Human Mutation, 2001
Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.
Beesley CE et al.
Journal of Medical Genetics, 2000
Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects.
Esposito S et al.
Biochimica Et Biophysica Acta, 2000
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.
Di Natale P et al.
Human Mutation, 1998
Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.
Montfort M et al.
Human Mutation, 1998