Associated Papers
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
Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship.
Sardiello M et al.
Human Molecular Genetics, 2005
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.
Yogalingam G et al.
Human Mutation, 2001
Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism.
Cormier-Daire V et al.
Journal of Medical Genetics, 2000
Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.
Beesley CE et al.
Journal of Medical Genetics, 2000
Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.
Montfort M et al.
Human Mutation, 1998
Novel mutations in Sanfilippo A syndrome: implications for enzyme function.
Weber B et al.
Human Molecular Genetics, 1997
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