Associated Papers
Mucopolysaccharidosis III: Molecular basis and treatment.
Spahiu L et al.
Pediatric Endocrinology, Diabetes, and Metabolism, 2021
Sanfilippo syndrome: causes, consequences, and treatments.
Fedele AO
The Application of Clinical Genetics, 2015
Sanfilippo syndrome: a mini-review.
Valstar MJ et al.
Journal of Inherited Metabolic Disease, 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
Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with sanfilippo phenotype in an attenuated patient.
Yogalingam G et al.
Biochimica Et Biophysica Acta, 2000
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
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